GALM
entrez
130589
canonical
uniprot
Q96C23
canonical
ensembl
ENSG00000143891
resolver
ensp
ENSP00000272252
resolver
ensp
ENSP00000785273
resolver
ensp
ENSP00000791013
resolver
enst
ENST00000272252
resolver
genesymbol
GALM
resolver
hgnc
HGNC:24063
resolver
uniprot
A0A384MDW6
resolver
uniprot
Q53RY1
resolver
uniprot
Q8NIA2
resolver
uniprot
V9HWA8
resolver
uniprot_entry
A0A384MDW6_HUMAN
resolver
uniprot_entry
GALM_HUMAN
resolver
uniprot_sec
Q53RY1
resolver
uniprot_sec
Q8NIA2
resolver
uniprot_sec
V9HWA8
resolver
amino_acid_sequence
MASVTRAVFGELPSGGGTVEKFQLQSDLLRVDIISWGCTITALEVKDRQGRASDVVLGFAELEGYLQKQPYFGAVIGRVANRIAKGTFKVDGKEYHLAINKEPNSLHGGVRGFDKVLWTPRVLSNGVQFSRISPDGEEGYPGELKVWVTYTLDGGELIVNYRAQASQATPVNLTNHSYFNLAGQASPNINDHEVTIEADTYLPVDETLIPTGEVAPVQGTAFDLRKPVELGKHLQDFHLNGFDHNFCLKGSKEKHFCARVHHAASGRVLEVYTTQPGVQFYTGNFLDGTLKGKNGAVYPKHSGFCLETQNWPDAVNQPRFPPVLLRPGEEYDHTTWFKFSVA
uniprot
proteins
disease_involvement
DISEASE: Galactosemia 4 (GALAC4) [MIM:618881]: A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive. {ECO:0000269|PubMed:30451973}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.1.3.3
uniprot
proteins
function
FUNCTION: Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism (PubMed:12753898). Beta-D-galactose is metabolized in the liver into glucose 1-phosphate, the primary metabolic fuel, by the action of four enzymes that constitute the Leloir pathway: GALM, GALK1 (galactokinase), GALT (galactose-1-phosphate uridylyltransferase) and GALE (UDP-galactose-4'-epimerase) (PubMed:30451973). Involved in the maintenance of the equilibrium between the beta- and alpha-anomers of galactose, therefore ensuring a sufficient supply of the alpha-anomer for GALK1 (PubMed:12753898). Also active on D-glucose although shows a preference for galactose over glucose (PubMed:12753898). {ECO:0000269|PubMed:12753898, ECO:0000269|PubMed:30451973}.
uniprot
proteins
mass_dalton
37766
uniprot
proteins
mutagenesis
MUTAGEN 107; /note="H->A: Decreased activity by 5-fold."; /evidence="ECO:0000269|PubMed:12753898"; MUTAGEN 176; /note="H->A: Decreased activity by 300-fold."; /evidence="ECO:0000269|PubMed:12753898"; MUTAGEN 307; /note="E->A: Loss of activity."; /evidence="ECO:0000269|PubMed:12753898
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; hexose metabolism. {ECO:0000305|PubMed:12753898}.; PATHWAY: Carbohydrate metabolism; galactose metabolism. {ECO:0000305|PubMed:12753898}.
uniprot
proteins
protein_family
Aldose epimerase family
uniprot
proteins
pubmed
12753898
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15026423
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30451973
uniprot
proteins
sequence_length
342
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
uniprot
proteins