[Term]
id: PR:000060606
name: sterol 26-hydroxylase, mitochondrial sequence variant R474Q, transit peptide removed form (human)
def: "A sterol 26-hydroxylase, mitochondrial (human) that has a Gln residue at the position equivalent to Arg-474 of the amino acid sequence represented by UniProtKB:Q02318 and that has had the transit peptide removed. UniProtKB:Q02318, 34-531, Arg-474, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-5602198]
comment: Category=organism-modification.
synonym: "hCYP27A1/var:R474Q/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "CYP27A1 R474Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5602198]
synonym: "UniProtKB:Q02318, 34-531, Arg-474, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5602198 "PR:000060606 located_in GO:0005759"
is_a: PR:Q02318 ! sterol 26-hydroxylase, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens