QuickView for GLA (gene)

Gene Symbol:

GLA Homo sapiens

Full name:

galactosidase alpha

Synonyms:

GALA, alpha-galactosidase A, agalsidase alfa, alpha-D-galactosidase A, alpha-D-galactoside galactohydrolase 1, alpha-gal A, melibiase

Genomic Location:

Chr X: 100539435-100549657

Description:

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 stabi...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GATTGGY_NFY_Q6_01 ,  USF_Q6 ,  STAT1_02 ,  TCANNTGAY_SREBP1_01 ,  EFC_Q6 ,  CACGTG_MYC_Q2 ,  XBP1_01 ,  ARNT_02 ,  NKX22_01 ,  ATGGYGGA_UNKNOWN ,  GGGAGGRR_MAZ_Q6 ,  CEBPDELTA_Q6 ,  SREBP1_01 ,  PAX2_01 ,  GGGCGGR_SP1_Q6 ,  MGGAAGTG_GABP_B ,  GTTGNYNNRGNAAC_UNKNOWN ,  USF_01 ,  USF_Q6_01 ,  USF_02 ,  GGGTGGRR_PAX4_03

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Cytogenetic Map:

Xq22.1

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