GLA

GENE INFORMATION

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Gene name

GLA (HGNC Symbol)

Synonyms

GALA

Description

galactosidase, alpha (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

q22.1

Chromosome location (bp)

100652791 - 100662913

Ensembl

ENSG00000102393 (version 73.37)

Entrez gene

2717

UniProt

P06280 (UniProt - Evidence at protein level)

neXtProt

NX_P06280

Antibodypedia

GLA antibodies
 

PROTEIN VIEW

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GLA-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GLA-001 ENSP00000218516
ENST00000218516
P06280
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