[Term]
id: PR:000085894
name: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial sequence variant G290N, transit peptide removed form (human)
def: "A 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (human) that has an Asn residue at the position equivalent to Gly-290 of the amino acid sequence represented by UniProtKB:P12694-1 and that has had the transit peptide removed. Example: UniProtKB:P12694-1, 46-445, Gly-290, CHEBI:50347." [PRO:DNx, Reactome:R-HSA-9865040]
comment: Category=organism-modification.
synonym: "hBCKDHA/var:G290N/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "G290R BCKDHA" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9865040]
synonym: "UniProtKB:P12694, 46-445, Gly-290, CHEBI:50347" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P12694-1, 46-445, Gly-290, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9865040 "PR:000085894 located_in GO:0005759"
is_a: PR:P12694 ! 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (human)
relationship: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens