GLA - galactosidase alpha Gene

Also Known as GALA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2717

About GLA

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:101,397,803-101,407,925 (from NCBI)

This gene has 16 transcripts (splice variants), 197 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 16.8), placenta (RPKM 14.4) and 25 other tissues.

Summary

This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]

GLA Products (4)

mRNA	Protein	Name
NM_000169.3	NP_000160.1	alpha-galactosidase A isoform b precursor
NM_001406747.1	NP_001393676.1	alpha-galactosidase A isoform a precursor
NM_001406748.1	NP_001393677.1	alpha-galactosidase A isoform c precursor
NM_001406749.1	NP_001393678.1	alpha-galactosidase A isoform d precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-galactosidase activity	IDA IDA: Inferred from direct assay	39940	GOA
enables alpha-galactosidase activity	IMP IMP: Inferred from mutant phenotype	10838196	GOA
enables catalytic activity	IDA IDA: Inferred from direct assay	39940	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1332979	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	6256390	GOA
enables signaling receptor binding	IDA IDA: Inferred from direct assay	1332979	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glycosphingolipid catabolic process	IDA IDA: Inferred from direct assay	8804427	GOA
involved in glycosphingolipid catabolic process	IMP IMP: Inferred from mutant phenotype	10838196	GOA
involved in oligosaccharide metabolic process	IDA IDA: Inferred from direct assay	39940	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IMP IMP: Inferred from mutant phenotype	1332979	GOA
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	1332979	GOA
located in extracellular region	IDA IDA: Inferred from direct assay	3029062	GOA
located in extracellular region	IMP IMP: Inferred from mutant phenotype	1332979	GOA
located in lysosome	IMP IMP: Inferred from mutant phenotype	1332979	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

GLA Protein Structure

Melibiase

0
100
200
300
400
429 a.a.

Protein Preferred Names	Protein Names
alpha-galactosidase A	agalsidase alfa

GLA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GLA	P06280	ALG11	Homo sapiens	Q2TAA5	Anti Tag CoIP	33961781
Intra	GLA	P06280	SORT1	Homo sapiens	Q99523	Pull Down	21949853

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GLA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7492	GLA/alpha-Galactosidase A Protein, Human (HEK293, His)	P06280 (L32-L429)	≥ 95%, as determined by reducing SDS-PAGE.

GLA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82333	Galactosidase alpha Antibody (YA2078)	WB, IHC-P, ICC/IF, IP, FC	Human

Related Diseases

Diseases	Alias
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
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Angiokeratoma	Angiokeratoma Of Skin Cutaneous Angiokeratoma Skin Angiokeratoma
Skin Hemangioma	Angioma Of The Skin Angiomatous Naevus Of Skin Hemangioma Of Skin
Sphingolipidosis	Sphingolipidoses
Anhidrosis	Hypohidrosis Absence Of Sweating Adiaphoresis Impaired Sweating Oligohidrosis
Sweat Gland Disease	Sweat Gland Diseases
Angiokeratoma Of Mibelli
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
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Schindler Disease	Alpha-N-Acetylgalactosaminidase Deficiency Naga Deficiency Alpha-Galactosidase B Deficiency Alpha-Galnac Deficiency, Schindler Type Alpha-Naga Deficiency Angiokeratoma Corporis Diffusum-Glycopeptiduria Galb Deficiency Kanzaki Disease Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum Neuroaxonal Dystrophy, Schindler Type Neuronal Axonal Dystrophy, Schindler Type Schindler Disease, Type I Schindler Disease, Type Ii
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
Keutel Syndrome	KTLS Pulmonic Stenosis, Brachytelephalangism, And Calcification Of Cartilages Pulmonic Stenosis Brachytelephalangism And Calcification Of Cartilages Pulmonic Stenosis-Brachytelephalangism-Calcification Of Cartilages Syndrome
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Cardiovascular Organ Benign Neoplasm
Angiokeratoma Of Fordyce	Fordyce Angiokeratoma Fordyce'S Spot Fordyce-Type Angiokeratoma Of Scrotum
Erythromelalgia	Primary Erythromelalgia Erythermalgia Primary Erythermalgia Mitchell Disease Familial Erythromelalgia
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
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]
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Angiokeratoma Circumscriptum
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
Congenital Disorder Of Glycosylation, Type Ib	CDG1B Cdg Ib Cdgib Mannosephosphate Isomerase Deficiency Mpi Deficiency Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome Saguenay-Lac Saint-Jean Syndrome Slsj Syndrome Congenital Disorder Of Glycosylation Ib Congenital Disorder Of Glycosylation 1b Mpi-Cdg Cdg-Ib Congenital Disorder Of Glycosylation Type 1b Congenital Disorder Of Glycosylation Type Ib Cdg, Gastrointestinal Type Cdg Syndrome Type Ib Carbohydrate Deficient Glycoprotein Syndrome Type Ib Phosphomannose Isomerase Deficiency Carbohydrate-Deficient Glycoprotein Syndrome Type Ib Cdg Gastrointestinal Type Cdgs1b Glycosylation, Congenital Disorder Of, Type Ib
Pompholyx	Dyshidrosis Vesicular Eczema Of Hands And/Or Feet Cheiropompholyx Dyshydrotic Eczema Eczema, Dyshidrotic Vesicular Hand Eczema
Kanzaki Disease	Alpha-N-Acetylgalactosaminidase Deficiency Type 2 Naga Deficiency Type 2 Schindler Disease, Type Ii Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency Schindler Disease Type 2 Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset Naga Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset KANZD Naga Deficiency Type Ii Schindler Disease Type Ii
Skin Benign Neoplasm	Neoplasm Of Skin By Site Tumor Of The Skin Skin Tumor Benign Neoplasm Of Skin Skin Neoplasms
Corneal Deposit	Deposits - Cornea
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
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Farber Lipogranulomatosis	Farber Disease Acid Ceramidase Deficiency Ceramidase Deficiency Ac Deficiency N-Laurylsphingosine Deacylase Deficiency Farber'S Disease FRBRL Farber'S Lipogranulomatosis Acylsphingosine Deacylase Deficiency Farber-Uzman Syndrome Acy
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]
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
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-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Danon Disease	Pseudoglycogenosis Ii Antopol Disease Glycogen Storage Disease Iib Glycogen Storage Disease Type 2b Glycogen Storage Disease Type Iib Gsd2b Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency Vacuolar Cardiomyopathy And Myopathy X-Linked Vacuolar Cardiomyopathy And Myopathy, X-Linked Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly Gsd2b, Formerly Gsd Iib, Formerly Glycogen Storage Cardiomyopathy Glycogen Storage Disease Limited To The Heart Pseudoglycogenosis 2 X-Linked Vacuolar Cardiomyopathy And Myopathy Lysosomal Glycogen Storage Disease With Normal Acid Maltase Glycogen Storage Disease Due To Lamp-2 Deficiency Gsd Due To Lamp-2 Deficiency Glycogenosis Due To Lamp-2 Deficiency Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity DAND Gsd-Iib
Gangliosidosis	Gangliosidoses
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
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
Mucopolysaccharidosis, Type Ivb	Mucopolysaccharidosis Type Ivb Mps Ivb MPS4B Morquio Syndrome B Beta-D-Galactosidase Deficiency Morquio Disease Type B Mps 4b Mucopolysaccharidosis Type 4b Mpsivb Morquio Disease, Type B Mucopolysaccharidosis Type Iv-B Mucopolysaccharidosis 4b Morquio'S Syndrome B Mps-Ivb
Mucopolysaccharidosis, Type Iva	Mps Iva Galns Deficiency MPS4A Morquio A Disease Galactosamine-6-Sulfatase Deficiency Morquio Syndrome A Mucopolysaccharidosis Iva Mucopolysaccharidosis Type Iva Mpsiva Morquio Disease Type A Mucopolysaccharidosis Type 4a N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency Morquio Syndrome Type A Mps 4a Morquio Disease, Type A Mucopolysaccharidosis 4a Morquio'S Syndrome A Mps Iv A Mucopolysaccharidosis Iv Mucopolysaccharidosis, Mps-Iv-A
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
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
Amyloidosis, Hereditary, Transthyretin-Related	Transthyretin Amyloidosis Familial Amyloid Polyneuropathy Ttr Amyloid Neuropathy Transthyretin Amyloid Neuropathy Transthyretin Amyloid Polyneuropathy Fap Familial Transthyretin Amyloidosis Amyloidosis Transthyretin Related Type I Familial Amyloid Polyneuropathy Familial Amyloid Polyneuropathy Type I Attrv122i Amyloidosis Hereditary Amyloidosis, Transthyretin-Related Amyloid Polyneuropathy, Familial Attr Amyloidosis Attrm Amyloidosis Corino De Andrade'S Disease Paramyloidosis Transthyretin-Related Hereditary Amyloidosis Ttr Amyloidosis Hereditary Attr Amyloidosis Portuguese Polyneuritic Amyloidosis Portuguese Type Familial Amyloid Neuropathy Swiss Type Amyloid Polyneuropathy Type Ii Familial Amyloid Polyneuropathy Attrv30m Amyloidosis Attrv30m-Related Amyloidosis Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type Attr Cardiomyopathy Attrv122i-Related Amyloidosis Ttr-Related Amyloid Cardiomyopathy Ttr-Related Cardiac Amyloidosis Transthyretin Amyloid Cardiopathy Transthyretin-Related Familial Amyloid Cardiomyopathy Amyloidosis, Transthyretin-Related AMYL-TTR Amyloidosis I Amyloidosis Ohio Type Amyloidosis Type 7 Amyloidosis Vii Amyloid Polyneuropathy Attr Familial Amyloid Polyneuropathy Type Ii Hereditary Amyloidosis Transthyretin-Related Leptomeningeal Amyloidosis Meningocerebrovascular Amyloidosis Oculoleptomeningeal Amyloidosis Familial Amyloid Polyneuropathies Amyloidosis, Leptomeningeal Senile Cardiac Amyloidosis Amyloid Neuropathies, Familial Danish Type Familial Amyloid Cardiomyopathy Familial Amyloid Neuropathy, Portuguese Type Amyloid Polyneuropathy, Swiss Type Hereditary Oculoleptomeningeal Amyloid Angiopathy Amyloid Neuropathies
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	CADASIL2 Cadasil 2 Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2 Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease Htra1-Related Autosomal Dominant Cerebral Angiopathy Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2 Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
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
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
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
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
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

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

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B2172	Vitamin K		98.70%	Unkown

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-112499	Menaquinone-7	Activator	98.51%	Phase 2
HY-112499R	Menaquinone-7 (Standard)		98.27%	Phase 2

Pre-clinical Phase

Bioactive Molecules (22)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-118135	4-Methylumbelliferyl-α-D-galactopyranoside		99.96%	Unkown
HY-W009276	γ-Linolenic Acid methyl ester	Inducer	98.08%	Unkown
HY-112499S1	Menaquinone-7-13C6		96.0%	Unkown
HY-144003	BAY-R 1005		/	Unkown
HY-165180	Lyso-sulfatide (bovine) sodium	Inhibitor	/	Unkown
HY-172552	RECTAS-2.0		/	Unkown
HY-E71229	α-Galactosidase 110A, Bacteroides fragilis		/	Unkown
HY-E71229A	α-Galactosidase 110A, Bacteroides thetaiotaomicron		/	Unkown
HY-E71230	α-Galactosidase 27A, Clostridium cellulolyticum		/	Unkown
HY-E71231	α-Galactosidase 4A, Bacillus halodurans		/	Unkown
HY-E71232	α-Galactosidase 95A, Bacteroides ovatus		/	Unkown
HY-E71233	α-Galactosidase 97A, Bacteroides thetaiotaomicron		/	Unkown
HY-E71234	α-Galactosidase 97B, Bacteroides thetaiotaomicron		/	Unkown
HY-RS05463	GLA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09043	NAT8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-112499S	Menaquinone-7-d7		/	Unkown
HY-131642	L-γ-Carboxyglutamic acid	Antagonist	/	Unkown
HY-185226	γ-Linolenic acid NHS ester		/	Unkown
HY-D3589	BC-GLA		99.64%	Unkown
HY-RS17243	Gla Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23697	Gla Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W1122690	Vitamin K-d7		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GLA	MGD	MGI:1347344
Rattus norvegicus	GLA	RGD	RGD:1589721
Bos taurus	GLA	VGNC	VGNC:29390
Canis familiaris	GLA	VGNC	VGNC:41248
Macaca mulatta	GLA	VGNC	VGNC:73065
Others	GLA	NCBI