GBA1 - glucosylceramidase beta 1 Gene

Also Known as GBA; GCB; GLUC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2629

About GBA1

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,234,452-155,244,627 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 245 orthologues and is associated with 16 phenotypes. Ubiquitous expression in thyroid (RPKM 22.8), placenta (RPKM 20.7) and 25 other tissues.

Summary

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

GBA1 Products (5)

mRNA	Protein	Name
NM_000157.4	NP_000148.2	lysosomal acid glucosylceramidase isoform 1 precursor
NM_001005741.3	NP_001005741.1	lysosomal acid glucosylceramidase isoform 1 precursor
NM_001005742.3	NP_001005742.1	lysosomal acid glucosylceramidase isoform 1 precursor
NM_001171811.2	NP_001165282.1	lysosomal acid glucosylceramidase isoform 2
NM_001171812.2	NP_001165283.1	lysosomal acid glucosylceramidase isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables glucosylceramidase activity	IDA IDA: Inferred from direct assay	9201993	GOA
enables glucosylceramidase activity	IMP IMP: Inferred from mutant phenotype	15916907	GOA
enables glucosyltransferase activity	IDA IDA: Inferred from direct assay	24211208	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21098288	GOA
enables scavenger receptor binding	IPI IPI: Inferred from physical interaction	25202012	GOA
enables steryl-beta-glucosidase activity	IDA IDA: Inferred from direct assay	24211208	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagy	IMP IMP: Inferred from mutant phenotype	27378698	GOA
involved in cellular response to tumor necrosis factor	IMP IMP: Inferred from mutant phenotype	19279008	GOA
involved in ceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	19279011	GOA
involved in cholesterol metabolic process	IDA IDA: Inferred from direct assay	24211208	GOA
involved in glucosylceramide catabolic process	IDA IDA: Inferred from direct assay	9201993	GOA
involved in glucosylceramide catabolic process	IMP IMP: Inferred from mutant phenotype	19279011	GOA
involved in lipid glycosylation	IDA IDA: Inferred from direct assay	24211208	GOA
involved in lysosome organization	IMP IMP: Inferred from mutant phenotype	27378698	GOA
NOT involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	25456120	GOA
involved in negative regulation of MAP kinase activity	IMP IMP: Inferred from mutant phenotype	19279008	GOA
involved in negative regulation of interleukin-6 production	IDA IDA: Inferred from direct assay	19279008	GOA
involved in negative regulation of protein-containing complex assembly	IDA IDA: Inferred from direct assay	26392287	GOA
NOT involved in neuron projection development	IMP IMP: Inferred from mutant phenotype	25456120	GOA
involved in positive regulation of neuronal action potential	IMP IMP: Inferred from mutant phenotype	25456120	GOA
involved in positive regulation of protein lipidation	IGI IGI: Inferred from genetic interaction	26392287	GOA
involved in positive regulation of protein-containing complex disassembly	IDA IDA: Inferred from direct assay	26392287	GOA
involved in regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	27378698	GOA
involved in sphingosine biosynthetic process	IMP IMP: Inferred from mutant phenotype	19279011	GOA
involved in termination of signal transduction	IMP IMP: Inferred from mutant phenotype	19279008	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lysosomal membrane	IDA IDA: Inferred from direct assay	17187079	GOA
located in lysosome	IMP IMP: Inferred from mutant phenotype	25202012	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GBA1 Protein Structure

Glyco_hydro_30

0
100
200
300
400
500
536 a.a.

Protein Preferred Names	Protein Names
lysosomal acid glucosylceramidase	D-glucosyl-N-acylsphingosine glucohydrolase

GBA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GBA1	P04062	TCP1	Homo sapiens	P17987	Anti Bait CoIP	21098288

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GBA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75786	GBA/Glucosylceramidase Protein, Human (HEK293, His)	P04062-1/NP_000148.2 (A40-Q536)	≥ 95%, as determined by reducing SDS-PAGE.

GBA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83512	GBA Antibody (YA3257)	WB, IHC-P	Human, Rat
HY-P83512A	GBA Antibody (YA3257)(PBS only)	WB, IHC-P	Human, Rat

Related Diseases

Diseases	Alias
Gaucher Disease, Type I	Glucocerebrosidase Deficiency Acid Beta-Glucosidase Deficiency Gba Deficiency GD1 Gd I Gaucher Disease, Noncerebral Juvenile Gaucher Disease Type 1 Gaucher Disease Type I Gaucher'S Disease Type I Gaucher Disease Gd 1 Non-Cerebral Juvenile Gaucher Disease GD Gaucher Disease 1 Adult Non-Neuronopathic Gaucher Disease Noncerebral Juvenile Gaucher Disease Type 1 Gaucher Disease Gaucher Disease, Type 1
Gaucher Disease, Type Ii	GD2 Gd Ii Gaucher Disease, Acute Neuronopathic Type Gaucher Disease Type 2 Gaucher Disease Type Ii Gaucher'S Disease Type Ii Infantile Cerebral Gaucher Disease Acute Neuronopathic Gaucher Disease Gd 2 Gaucher Disease, Infantile Cerebral Gaucher Disease 2 Type 2 Gaucher Disease Gaucher Disease, Type 2
Gaucher Disease, Type Iii	Gaucher Disease, Subacute Neuronopathic Type Gd Iii Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease Type 3 GD3 Gaucher'S Disease Type Iii Gaucher Disease Type Iii Gd 3 Cerebral Juvenile And Adult Form Of Gaucher Disease Chronic Neuronopathic Gaucher Disease Gaucher Disease 3 Cerebral, Juvenile And Adult, Gaucher Disease Gaucher Disease Chronic Neuronopathic Type Gaucher Disease Type Ii Subacute Neuronopathic Gaucher Disease Type 3 Gaucher Disease Gaucher Disease, Type 3 Gaucher Disease, Type 2
Gaucher Disease, Perinatal Lethal	Gaucher Disease Perinatal Lethal Gaucher Disease, Collodion Type Gaucher'S Disease Perinatal Lethal Fetal Gaucher Disease Perinatal Lethal Gaucher Disease Gaucher Disease Collodion Type Gaucher Disease, Perinatal-Lethal Form GDPL
Gaucher Disease, Type Iiic	Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome Gaucher-Like Disease GD3C Gaucher'S Disease Type Iiic Cardiovascular Gaucher Disease Gaucher Disease Type 3c Gaucher Disease 3c Pseudo-Gaucher Disease
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Dementia, Lewy Body	Lewy Body Dementia Lewy Body Disease Diffuse Lewy Body Disease Dementia With Lewy Bodies DLB Autosomal Dominant Diffuse Lewy Body Disease Cortical Lewy Body Disease Dementia, Lewy Body, Susceptibility To Lewy Body Dementia, Susceptibility To Senile Dementia Of The Lewy Body Type Dementia Of The Lewy Body Type Lbd Diffuse Lewy Body Disease With Gaze Palsy Dysphasic Dementia Hereditary Lewy Body Type Senile Dementia Lewy Body Variant Of Alzheimer Disease Lewy Bodies Lewy Body Dlbd - [Diffuse Lewy Body Disease] Clbd - [Cortical Lewy Body Disease]
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
Hereditary Late-Onset Parkinson Disease	Autosomal Dominant Late-Onset Parkinson Disease Lopd Hereditary Late Onset Parkinson Disease
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Movement Disease	Movement Disorders Movement Disorder
Speech Disorder	Speech Disorders
Sphingolipidosis	Sphingolipidoses
Rem Sleep Behavior Disorder	Rapid Eye Movement Sleep Behavior Disorder Rem Sleep Behaviour Disorder Rapid Eye Movement Sleep Behaviour Disorder Rem - [Rapid Eye Movement] Behaviour Disorder
Krabbe Disease	Globoid Cell Leukodystrophy Galactosylceramide Beta-Galactosidase Deficiency Galc Deficiency Galactocerebrosidase Deficiency GLD Globoid Cell Leukoencephalopathy Diffuse Globoid Body Sclerosis Gcl Leukodystrophy, Globoid Cell Krabbe'S Leukodystrophy Krabbe Leukodystrophy KRB Beta Galactocerebrosidase Deficiency Krabbe'S Disease Galactosylceramidase Deficiency Disease Galactosylceramide Lipidosis Galactosylcerebrosidase Deficiency Galactosylsphingosine Lipidosis Psychosine Lipidosis Galactosylceramidase Deficiency Infantile Globoid Cell Leukodystrophy Krabbe Brain Sclerosis
Immune Hydrops Fetalis	Ihf Immune Hf Immune Fetal Edema Immune Fetal Hydrops
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Adenosine Deaminase Deficiency	Ada Deficiency Ada-Scid Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency Adenosine Deaminase Deficient Severe Combined Immunodeficiency Scid Due To Ada Deficiency Severe Combined Immunodeficiency Due To Ada Deficiency Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Ada Scid Due To Adenosine Deaminase Deficiency
Splenomegaly
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Progressive Myoclonus Epilepsy 4	Action Myoclonus-Renal Failure Syndrome Amrf Epm4 Myoclonus-Nephropathy Syndrome
Parkinson Disease 1, Autosomal Dominant	Autosomal Dominant Parkinson Disease 1 PARK1 Parkinson Disease 1 Parkinson'S Disease 1 Atypical Parkinson Disease Parkinson Disease 1, Autosomal Dominant Lewy Body Autosomal Dominant Parkinson'S Disease 1 Lewy Body Parkinsonism Parkinson Disease Autosomal Dominant 1 Parkinson Disease Familial Type 1 Parkinson Disease, Type 1 Parkinson Disease, Familial, Type 1
Netherton Syndrome	NETH Ns Netherton Disease Comel-Netherton Syndrome Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige Bamboo Hair Syndrome Ichthyosis Linearis Circumflexa Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige Ilc Nts N Syndrome
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Avascular Necrosis	Avn
Parkinson Disease 4, Autosomal Dominant	Autosomal Dominant Parkinson Disease 4 PARK4 Parkinson Disease 4, Autosomal Dominant Lewy Body Parkinson Disease 4 Parkinson'S Disease 4 Autosomal Dominant Lewy Body Parkinson Disease 4 Autosomal Dominant Parkinson'S Disease 4 Parkinson Disease 4 Autosomal Dominant Lewy Body Parkinson Disease Autosomal Dominant 4 Parkinson Disease Familial Type 4 Parkinson Disease, Type 4
Multicentric Carpotarsal Osteolysis Syndrome	Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy MCTO Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy Idiopathic Multicentric Osteolysis With Or Without Nephropathy Autosomal Dominant Multicentric Osteolysis Hereditary Osteolysis Of Carpal Bones With Or Without Nephropathy Multicentric Osteolysis, Autosomal Dominant Multicentric Osteolysis Nephropathy Osteolysis, Carpotarsal, Multicentric Syndrome Lytic Lesion
Hand, Foot And Mouth Disease	Vesicular Stomatitis And Exanthem
Essential Tremor	Benign Essential Tremor Familial Tremor Hereditary Essential Tremor Essential Hereditary Tremor Shaky Hand Syndrome Benign Essential Tremor Syndrome Tremor Hereditary Essential Essential Tremor, Susceptibility To Tremor, Hereditary Essential
Achondroplasia	Achondroplastic Dwarfism ACH Osteosclerosis Congenita Achondroplastic Physique Chondrodystrophia Dwarf, Achondroplastic Achondroplastic Short Stature Congenital Osteosclerosis
Meier-Gorlin Syndrome 3	MGORS3 Meier-Gorlin Syndrome, Type 3
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Fabry Disease	Alpha-Galactosidase A Deficiency Anderson-Fabry Disease Angiokeratoma Corporis Diffusum Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac Variant Fabry'S Disease Hereditary Dystopic Lipidosis Gla Deficiency FD Alpha Galactosidase Deficiency Deficiency Of Melibiase Angiokeratoma, Diffuse Angiokeratoma Diffuse Diffuse Angiokeratoma
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	MRD55 Mental Retardation, Autosomal Dominant 55, With Seizures Autosomal Dominant Mental Retardation 55 Autosomal Dominant Intellectual Developmental Disorder 55 Autosomal Dominant Intellectual Developmental Disorder-55 With Seizures Mental Retardation, Autosomal Dominant, Type 55, With Seizures
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Gangliosidosis	Gangliosidoses
Charcot-Marie-Tooth Disease, Axonal, Type 2v	CMT2V Charcot-Marie-Tooth Disease Axonal Type 2v Charcot-Marie-Tooth Neuropathy, Type 2v Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v Charcot-Marie-Tooth Neuropathy Type 2v Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation Hereditary Adult-Onset Painful Axonal Polyneuropathy Charcot-Marie-Tooth Disease 2v
Early-Onset Parkinson'S Disease	Early-Onset Parkinson Disease
Mouth Disease	Mouth Diseases Mouth Disorders
Pancytopenia
Vascular Parkinsonism
Kufor-Rakeb Syndrome	Park9 Krppd KRS Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia Autosomal Recessive Parkinson Disease 9 Parkinson Disease 9 Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset Autosomal Recessive Juvenile Onset Parkinson Disease 9 Parkinson Disease Type 9 Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia Park 9 Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis Cln12 Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Parkinson Disease Autosomal Recessive 9
Niemann-Pick Disease, Type A	Niemann-Pick Disease Type A Sphingomyelin Lipidosis Sphingomyelinase Deficiency Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Acid Sphingomyelinase Deficiency, Neurovisceral Type Asmd, Neurovisceral Type Infantile Neurovisceral Acid Sphingomyelinase Deficiency Infantile Neurovisceral Asmd Npd-A Niemann-Pick Disease A NPDA Classical Niemann-Pick Disease Niemann-Pick Disease Acute Neuronopathic Form Niemann-Pick Disease Acute Neurovisceral Form Niemann-Pick Disease Classical Infantile Form Niemann-Pick Disease Intermediate Protracted Neurovisceral Niemann-Pick Disease Neuronopathic Type Niemann-Pick Disease Type I Npa Niemann-Pick Diseases
Sandhoff Disease	Total Hexosaminidase Deficiency Hexosaminidases A And B Deficiency Sandhoff Disease, Infantile, Juvenile, And Adult Forms Beta-Hexosaminidase-Beta-Subunit Deficiency Gm2 Gangliosidosis, Type 2 Hexosaminidase A And B Deficiency Disease Sandhoff-Jatzkewitz-Pilz Disease Gm2 Gangliosidosis, Type Ii Sandhoff Disease, Infantile Form Sandhoff Disease, Adult Form Sandhoff Disease, Juvenile Form Gm2-Gangliosidosis, Type Ii Sandhoff Jatzkewitz Disease Type Ii Gm2 Gangliosidosis Gm2 Gangliosidosis, 0 Variant Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Infantile Form Infantile Gm2 Gangliosidosis 0 Variant Adult Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Adult Form Hexosaminidases A And B Deficiency, Juvenile Form Juvenile Gm2 Gangliosidosis 0 Variant Gm2-Gangliosidosis 2 GM2G2 Hexosaminidase A And B Deficiency Sd
Mucopolysaccharidosis, Type Ii	Hunter Syndrome Iduronate 2-Sulfatase Deficiency Mucopolysaccharidosis Ii Mps Ii Mucopolysaccharidosis Type Ii MPS2 Sulfoiduronate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Ii Ids Deficiency Sids Deficiency I2s Deficiency Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 2, Severe Form Deficiency Of Iduronate-2-Sulphatase Hunter'S Syndrome Mps Ii - Hunter Syndrome Iduronate-2-Sulfatase Deficiency Attenuated Mps Mps 2 Severe Mps Ii Mpsii Mucopolysaccharidosis Type 2, Attenuated Form Hunter Syndrome Type B Iduronate 2-Sulfatase Deficiency Type B Mps2b Mpsiib Mucopolysaccharidosis Type 2b Mucopolysaccharidosis Type Ii, Attenuated Form Mucopolysaccharidosis Type Iib Hunter Syndrome Type A Iduronate 2-Sulfatase Deficiency Type A Mps2a Mpsiia Mucopolysaccharidosis Type 2a Mucopolysaccharidosis Type Ii, Severe Form Mucopolysaccharidosis Type Iia Mucopolysaccharidosis 2 Hunters Syndrome Iduronate 2-Sulphatase Deficiency Iduronate Sulfatase Deficiency Iduronate Sulphatase Deficiency Sulfo-Iduronate Sulfatase Deficiency Sulfoiduronidate Sulfatase Deficiency Sulpho-Iduronate Sulphatase Deficiency Sulphoiduronidate Sulphatase Deficiency Mps2 - [Mucopolysaccharidosis 2]
Hemorrhagic Disease	Hemorrhagic Disorders Hemorrhagic Diathesis Hemorrhagic Diseases Bleeding Tendency Acquired Coagulation Factor Inhibitor Disorder Acquired Inhibitor Of Coagulation Antithrombinaemia Antithromboplastinogenaemia Circulating Anticoagulant Disorder Haemorrhagic Disorder Due To Antithrombinaemia Haemorrhagic Disorder Due To Excess Administered Heparin Antithromboplastinaemia Haemorrhagic Disorder Due To Hyperheparinemia
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Niemann-Pick Disease, Type B	Niemann-Pick Disease Type B Acid Sphingomyelinase Deficiency, Visceral Type Asmd, Visceral Type Niemann Pick Disease Type B Chronic Visceral Acid Sphingomyelinase Deficiency Chronic Visceral Asmd Npd-B Niemann-Pick Disease B NPDB Niemann-Pick Disease Adult Non-Neuronopathic Form Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression Niemann-Pick Disease Type E Niemann-Pick Disease Type F Niemann-Pick Disease Type I Niemann-Pick Disease Visceral Form Npb Sphingomyelinase Deficiency Sphingomyelin Lipidosis Niemann-Picks Disease Type B Niemann-Pick Disease, Type E Niemann-Pick Diseases Niemann-Pick Disease, Type A
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Multiple System Atrophy 1	Multiple System Atrophy Shy-Drager Syndrome Msa MSA1 Multiple System Atrophy 1, Susceptibility To Sporadic Olivopontocerebellar Atrophy Multisystem Atrophy Msa1, Susceptibility To Multiple System Atrophy, Susceptibility To Opca Progressive Autonomic Failure With Multiple System Atrophy Sds
Mucopolysaccharidosis, Type Vi	Maroteaux-Lamy Syndrome Arylsulfatase B Deficiency Mucopolysaccharidosis Type Vi Mps Vi Mucopolysaccharidosis Vi Mucopolysaccharidosis Type 6 MPS6 Arsb Deficiency N-Acetylgalactosamine-4-Sulfatase Deficiency Mucopolysaccharidosis 6 N-Acetylgalactosamine 4-Sulfatase Deficiency Deficiency Of N-Acetylgalactosamine-4-Sulfatase Maroteaux - Lamy Syndrome Mps Vi - Maroteaux-Lamy Syndrome Mps 6 Maroteaux Lamy Syndrome Mucopoly-Saccharidosis Type Vi Polydystrophic Dwarfism Asb Deficiency Mpsvi Maroteaux-Lamy Disease Arsb - [Arylsulfatase B] Deficiency
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
C Syndrome	Opitz Trigonocephaly Syndrome Trigonocephaly Trigonocephaly Syndrome Trigonocephaly C Syndrome Opitz C Trigonocephaly Opitz Trigonocephaly C Syndrome Otcs CSYN
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Ichthyosis, Congenital, Autosomal Recessive 4a	Ichthyosis Congenita Iib Icr2b Autosomal Recessive Congenital Ichthyosis 4a ARCI4A Lamellar Ichthyosis 2 Li2 Ichthyosis, Lamellar, 2, Formerly Li2, Formerly Ichthyosis Lamellar 2 Lamellar Ichthyosis, Type 2 Ichthyosis, Lamellar 2 Ichthyosis, Congenital, Autosomal Recessive, Type 4a
Supranuclear Palsy, Progressive, 1	Progressive Supranuclear Palsy Steele-Richardson-Olszewski Syndrome Supranuclear Palsy, Progressive Progressive Supranuclear Ophthalmoplegia Psp PSNP1 Familial Progressive Supranuclear Palsy Richardson'S Syndrome Psp Syndrome Progressive Supranuclear Palsy 1 Supranuclear Palsy Progressive Ophthalmoplegia, Supranuclear, Progressive Steele-Richardson-Olszewksi Syndrome
Mucolipidosis
Sleep Disorder	Sleep Disorders Non-Organic Sleep Disorder
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GBA1	VGNC	VGNC:72893
Mus musculus	GBA1	MGD	MGI:95665
Rattus norvegicus	GBA1	RGD	RGD:1589149
Felis catus	GBA1	VGNC	VGNC:62481
Bos taurus	GBA1	VGNC	VGNC:50183
Canis familiaris	GBA1	VGNC	VGNC:41130
Others	GBA1	NCBI