GALC
entrez
2581
canonical
uniprot
P54803
canonical
ensembl
ENSG00000054983
resolver
ensp
ENSP00000261304
resolver
ensp
ENSP00000377198
resolver
ensp
ENSP00000377199
resolver
ensp
ENSP00000437513
resolver
ensp
ENSP00000450472
resolver
genesymbol
GALC
resolver
hgnc
HGNC:4115
resolver
uniprot
A0A0A0MQV0
resolver
uniprot
B4DKE8
resolver
uniprot
B4DYN1
resolver
uniprot
B4DZJ8
resolver
uniprot
B7Z7Z2
resolver
uniprot
J3KN25
resolver
uniprot
J3KPP8
resolver
uniprot
Q8J030
resolver
uniprot_entry
A0A0A0MQV0_HUMAN
resolver
uniprot_entry
GALC_HUMAN
resolver
uniprot_sec
B4DKE8
resolver
uniprot_sec
B4DYN1
resolver
uniprot_sec
B4DZJ8
resolver
uniprot_sec
B7Z7Z2
resolver
uniprot_sec
J3KN25
resolver
uniprot_sec
J3KPP8
resolver
uniprot_sec
Q8J030
resolver
amino_acid_sequence
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR
uniprot
proteins
disease_involvement
DISEASE: Krabbe disease (KRB) [MIM:245200]: An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. {ECO:0000269|PubMed:10234611, ECO:0000269|PubMed:10477434, ECO:0000269|PubMed:17579360, ECO:0000269|PubMed:20886637, ECO:0000269|PubMed:23462331, ECO:0000269|PubMed:34449528, ECO:0000269|PubMed:8595408, ECO:0000269|PubMed:8687180, ECO:0000269|PubMed:8786069, ECO:0000269|PubMed:8940268, ECO:0000269|PubMed:9272171, ECO:0000269|PubMed:9338580}. Note=The disease is caused by variants affecting the gene represented in this entry.
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:8281145, PubMed:8399327). 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 (PubMed:8281145, PubMed:8399327). {ECO:0000269|PubMed:8281145, ECO:0000269|PubMed:8399327}.
uniprot
proteins
mass_dalton
77063
uniprot
proteins
protein_family
Glycosyl hydrolase 59 family
uniprot
proteins
pubmed
10234611
uniprot
proteins
pubmed
10477434
uniprot
proteins
pubmed
10833326
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17579360
uniprot
proteins
pubmed
20886637
uniprot
proteins
pubmed
23462331
uniprot
proteins
pubmed
34449528
uniprot
proteins
pubmed
7581365
uniprot
proteins
pubmed
7601472
uniprot
proteins
pubmed
8281145
uniprot
proteins
pubmed
8297359
uniprot
proteins
pubmed
8399327
uniprot
proteins
pubmed
8595408
uniprot
proteins
pubmed
8687180
uniprot
proteins
pubmed
8786069
uniprot
proteins
pubmed
8940268
uniprot
proteins
pubmed
9272171
uniprot
proteins
pubmed
9338580
uniprot
proteins
pubmed
9434153
uniprot
proteins
sequence_length
685
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome.
uniprot
proteins