Galc
entrez
14420
canonical
uniprot
P54818
canonical
ensembl
ENSMUSG00000021003
resolver
ensp
ENSMUSP00000021390
resolver
ensp
ENSMUSP00000152540
resolver
ensp
ENSMUSP00000246338
resolver
enst
ENSMUST00000021390
resolver
genesymbol
Galc
resolver
uniprot
O35151
resolver
uniprot
Q3U3H7
resolver
uniprot_entry
GALC_MOUSE
resolver
uniprot_sec
O35151
resolver
uniprot_sec
Q3U3H7
resolver
amino_acid_sequence
MANSQPKASQQRQAKVMTAAAGSASRVAVPLLLCALLVPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSEILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYELDENYFRGYEWWLMKEAKKRNPDIILMGLPWSFPGWLGKGFSWPYVNLQLTAYYVVRWILGAKHYHDLDIDYIGIWNERPFDANYIKELRKMLDYQGLQRVRIIASDNLWEPISSSLLLDQELWKVVDVIGAHYPGTYTVWNAKMSGKKLWSSEDFSTINSNVGAGCWSRILNQNYINGNMTSTIAWNLVASYYEELPYGRSGLMTAQEPWSGHYVVASPIWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHQHSMCIRPYLPYYNVSHQLATFTLKGSLREIQELQVWYTKLGTPQQRLHFKQLDTLWLLDGSGSFTLELEEDEIFTLTTLTTGRKGSYPPPPSSKPFPTNYKDDFNVEYPLFSEAPNFADQTGVFEYYMNNEDREHRFTLRQVLNQRPITWAADASSTISVIGDHHWTNMTVQCDVYIETPRSGGVFIAGRVNKGGILIRSATGVFFWIFANGSYRVTADLGGWITYASGHADVTAKRWYTLTLGIKGYFAFGMLNGTILWKNVRVKYPGHGWAAIGTHTFEFAQFDNFRVEAAR
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Galc are the cause of the 'twitcher' phenotype; an autosomal recessive leukodystrophy similar to the human disease (Krabbe disease). This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin.
uniprot
proteins
ec_number
3.2.1.46
uniprot
proteins
function
FUNCTION: Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:10861297, PubMed:8769874). Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon (By similarity). {ECO:0000250|UniProtKB:P54803, ECO:0000269|PubMed:10861297, ECO:0000269|PubMed:8769874}.
uniprot
proteins
mass_dalton
77256
uniprot
proteins
protein_family
Glycosyl hydrolase 59 family
uniprot
proteins
pubmed
10861297
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21876145
uniprot
proteins
pubmed
8769874
uniprot
proteins
sequence_length
684
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000250}.
uniprot
proteins