[Term]
id: PR:000062200
name: bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase sequence variant V572L (human)
def: "A bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human) that has a Leu residue at the position equivalent to Val-572 of the amino acid sequence represented by UniProtKB:Q9Y223-1. Example: UniProtKB:Q9Y223-1, Val-572, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-4088323]
comment: Category=organism-sequence.
synonym: "hGNE/var:V572L" EXACT PRO-short-label [PRO:DNx]
synonym: "GNE V572L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-4088323]
synonym: "UniProtKB:Q9Y223, Val-572, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q9Y223-1, Val-572, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-4088323 "PR:000062200 located_in GO:0005829"
is_a: PR:Q9Y223 ! bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens