GALC - galactosylceramidase Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2581

About GALC

Cytogenetic location: 14q31.3 Genomic coordinates (GRCh38): 14:87,933,014-87,993,665 (from NCBI)

This gene has 16 transcripts (splice variants), 229 orthologues and is associated with 5 phenotypes. Ubiquitous expression in small intestine (RPKM 14.9), duodenum (RPKM 14.2) and 25 other tissues.

Summary

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GALC Products (3)

mRNA Protein Name
NM_000153.4 NP_000144.2 galactocerebrosidase isoform a precursor
NM_001201401.2 NP_001188330.1 galactocerebrosidase isoform c precursor
NM_001201402.2 NP_001188331.1 galactocerebrosidase isoform d
Molecular Function GO Annotation Evidence References Source
enables galactosylceramidase activity IDA
IDA: Inferred from direct assay
8281145 GOA
Biological Process GO Annotation Evidence References Source
involved in galactosylceramide catabolic process IDA
IDA: Inferred from direct assay
8399327 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

GALC Protein Structure

Glyco_hydro_59

Glyco_hydro_59: Glycosyl hydrolase family 59 (17 - 685)

  • 0
  • 200
  • 400
  • 600
  • 685 a.a.
Protein Preferred Names Protein Names

galactocerebrosidase

  • GALCERase

GALC Antibodies

Cat. No. Product Name Application Reactivity
HY-P86885 GALC Antibody (YA6578) WB, IHC-P Human

Related Diseases

Diseases Alias
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

Infantile Krabbe Disease
  • Krabbe Disease, Classic Form

  • Krabbe Disease, Early-Onset

  • Infantile Globoid Cell Leukodystrophy

Late-Infantile/Juvenile Krabbe Disease
  • Krabbe Disease, Late-Onset

Adult Krabbe Disease
Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Status Epilepticus
  • Grand Mal Status Epilepticus

  • Grand Mal Status

  • Gcse

  • Generalized Convulsive Status Epilepticus

  • Se

  • Epilepsy With Status Epilepticus

Leukodystrophy
  • Leukodystrophies

Amblyopia
  • Lazy Eye

Hypomyelinating Leukodystrophy
  • Hld

  • Leukodystrophy, Hypomyelinating

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

Sphingolipidosis
  • Sphingolipidoses

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Lysosomal Storage Disease
  • Lysosomal Storage Diseases

  • Disorder Of Lysosomal Enzyme

  • Inborn Lysosomal Enzyme Disorder

  • Lysosomal Storage Metabolism Disorder

  • Lysosomal Storage Disorder

Combined Saposin Deficiency
  • Encephalopathy Due To Prosaposin Deficiency

  • Combined Sap Deficiency

  • PSAPD

  • Prosaposin Deficiency

  • Combined Prosaposin Deficiency

  • CSAPD

  • Saposin Deficiency, Combined

Demyelinating Disease
  • Demyelinating Diseases

  • Demyelinating Disorder

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

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]

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

Gm1-Gangliosidosis, Type I
  • Gm1 Gangliosidosis Type 1

  • Beta-Galactosidase-1 Deficiency

  • Infantile Gm1 Gangliosidosis

  • GM1G1

  • Gangliosidosis, Generalized Gm1, Type 1

  • Glb1 Deficiency

  • Gangliosidosis Generalized Gm1 Type 1

  • Gangliosidosis, Generalized Gm1, Type I

  • Gangliosidosis, Generalized Gm1, Infantile Form

  • Beta Galactosidase Deficiency Type 1

  • Glb Deficiency Type 1

  • Gangliosidosis Generalized Gm1 Infantile Form

  • Norman-Landing Disease

  • Gm1-Gangliosidosis 1

  • Gangliosidosis Generalized Gm1 Infantile Type

  • Gm1-Gangliosidosis Infantile

  • Gangliosidosis Gm1 Infantile

  • Gangliosidosis, Gm1, Type I

  • Gangliosidosis Gm1

  • Beta-Galactosidase Deficiency

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

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

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

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

Gangliosidosis
  • Gangliosidoses

Gm2 Gangliosidosis
  • Gangliosidosis Gm2

  • Gangliosidoses, Gm2

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
  • Jankovic-Rivera Syndrome

  • SMAPME

  • Sma-Pme

  • Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

  • Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

  • Hereditary Myoclonus With Progressive Distal Muscular Atrophy

  • Jankovic Rivera Syndrome

  • Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy

  • Myoclonus Hereditary Progressive Distal Muscular Atrophy

  • Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Cerebral Degeneration
  • Brain Degeneration

  • Degenerative Brain Disorder

Pelizaeus-Merzbacher Disease
  • PMD

  • HLD1

  • Pelizaeus-Merzbacher Brain Sclerosis

  • Leukodystrophy, Hypomyelinating, 1

  • Diffuse Familial Brain Sclerosis

  • Pelizaeus Merzbacher Brain Sclerosis

  • Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

  • Cockayne-Pelizaeus-Merzbacher Disease

  • Hypomyelinating Leukodystrophy 1

  • Leukodystrophy, Sudanophilic

  • Pelizaeus Merzbacher Disease

  • Hypomyelinating Leukodystrophy, 1

  • Sudanophilic Leukodystrophy

  • Pelizaeus-Merzbacher Disease, Connatal Form

  • Connatal Pmd

  • Pelizaeus-Merzbacher Disease Type Ii

  • Severe Pmd

  • Null Syndrome

  • Plp1 Null Syndrome

  • Pelizaeus-Merzbacher Disease, Null Syndrome

  • Brain Sclerosis Diffuse Familial

  • Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

  • Leukodystrophy Hypomyelinating 1

  • Diffuse Cerebral Sclerosis Of Schilder

Gm2-Gangliosidosis, Ab Variant
  • Hexosaminidase Activator Deficiency

  • Tay-Sachs Disease, Ab Variant

  • Gm2 Gangliosidosis, Ab Variant

  • Gm2 Activator Deficiency

  • Tay-Sachs Disease, Variant Ab

  • Tay-Sachs Disease Ab Variant

  • Ab Variant Gm2-Gangliosidosis

  • Tay-Sachs Variant Ab

  • Ab Variant

  • Activator Deficiency/Gm2 Gangliosidosis

  • Activator-Deficient Tay-Sachs Disease

  • Gm2 Activator Deficiency Disease

  • Gm2 Gangliosidosis, Type Ab

  • Gm2-Gangliosidosis Ab

  • GM2GAB

  • Gm2-Gangliosidosis Ab Variant

  • Gangliosidosis Gm2 Ab Variant

  • Gm2-Gangliosidosis, Variant Ab

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

Mucopolysaccharidosis, Type Iiib
  • Mucopolysaccharidosis Type Iiib

  • MPS3B

  • Naglu Deficiency

  • Mps Iiib

  • Sanfilippo Syndrome B

  • N-Acetyl-Alpha-D-Glucosaminidase Deficiency

  • Mpsiiib

  • Mucopoly-Saccharidosis Type 3b

  • Mucopolysaccharidosis Type 3b

  • N-Acetyl-Alpha-Glucosaminidase Deficiency

  • Sanfilippo Syndrome Type B

  • Mps Iii B

  • Mps 3b

  • Mps Iii-B

  • Mucopolysaccharidosis 3b

Tolosa-Hunt Syndrome
  • Painful Ophthalmoplegia

  • Tolosa Hunt Syndrome

  • Nonspecific Inflammation Of The Cavernous Sinus Or Superior Orbital Fissure

  • Ths

  • Ophthalmoplegia, Painful

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

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

Lipid Storage Disease
  • Lipoidosis

  • Inborn Lipid Storage Disorder

  • Lipoid Storage Diseas

  • Lipid Storage Diseases

  • Lipidoses

Canavan Disease
  • Aspartoacylase Deficiency

  • Aminoacylase 2 Deficiency

  • Spongy Degeneration Of Central Nervous System

  • Aspa Deficiency

  • Acy2 Deficiency

  • Canavan-Van Bogaert-Bertrand Disease

  • Mild Canavan Disease

  • Asp Deficiency

  • Spongy Degeneration Of The Central Nervous System

  • Severe Canavan Disease

  • Von Bogaert-Bertrand Disease

  • Canavan'S Disease

  • Spongy Degeneration Of The Brain

  • Juvenile Canavan Disease

  • Infantile Canavan Disease

  • Neonatal Canavan Disease

  • CAND

  • Disease, Canavan

  • Canavan Disease, Juvenile

  • Canavan Disease, Infantile

  • Canavan Disease, Neonatal

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

Periventricular Leukomalacia
  • Leukomalacia, Periventricular

  • Pvl

  • Leukomalacia Periventricular

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

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

Encephalomalacia
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

Leukodystrophy, Hypomyelinating, 5
  • Hypomyelination And Congenital Cataract

  • HLD5

  • Hypomyelination-Congenital Cataract Syndrome

  • Hypomyelinating Leukodystrophy 5

  • Hcc

  • Hypomyelination And Congenital Cataract: Hcc

  • Hypomyelination - Congenital Cataract

  • Hypomyelination With Congenital Cataract

Demyelinating Polyneuropathy
  • Peripheral Demyelinating Neuropathy

  • Demyelinating Peripheral Neuropathy

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]

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

Nephrotic Syndrome, Type 14
  • Sphingosine Phosphate Lyase Insufficiency Syndrome

  • Nephrotic Syndrome 14

  • NPHS14

  • Splis

  • Nephrotic Syndrome Type 14

  • Sgpl1 Deficiency

  • Steroid-Resistant Nephrotic Syndrome Type 14

  • Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

  • Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Mucopolysaccharidosis, Type Iiia
  • Mucopolysaccharidosis Type Iiia

  • MPS3A

  • Mps Iiia

  • Sanfilippo Syndrome A

  • Heparan Sulfate Sulfatase Deficiency

  • Sulfamidase Deficiency

  • Heparan Sulfamidase Deficiency

  • Mpsiiia

  • Mucopolysaccharidosis Type 3a

  • Sanfilippo Syndrome Type A

  • Mucopolysaccharidosis Iii-A

  • Heparane Sulfamidase Deficiency

  • Mps 3a

  • Mucopoly-Saccharidosis Type 3a

  • Mps Iii-A

  • Mucopolysaccharidosis 3a

  • Mucopolysaccharidosis Iii

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

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

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

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

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
Felis catus GALC VGNC VGNC:80966
Macaca mulatta GALC VGNC VGNC:72867
Rattus norvegicus GALC RGD RGD:1359384
Mus musculus GALC MGD MGI:95636
Canis familiaris GALC VGNC VGNC:41079
Bos taurus GALC VGNC VGNC:29217
Others GALC NCBI