[Term]
id: PR:000010912
name: methylmalonic aciduria type A, mitochondrial
def: "A protein that is a translation product of the human MMAA gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene.
synonym: "MMAA" EXACT PRO-short-label [PRO:DNx]
is_a: PR:000000001 ! protein

[Term]
id: PR:000048389
name: methylmalonic aciduria type A protein, mitochondrial, transit peptide removed form (human)
def: "A methylmalonic aciduria type A protein, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q8IVH4, 66-418." [PRO:DNx, Reactome:R-HSA-2980907]
comment: Category=organism-modification.
synonym: "PRO_0000002285" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "hMMAA/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q8IVH4, 66-418" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2980907 "PR:000048389 located_in GO:0005759"
intersection_of: PR:Q8IVH4 ! methylmalonic aciduria type A protein, mitochondrial (human)
intersection_of: lacks_part SO:0000725 ! transit_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:Q8IVH4
name: methylmalonic aciduria type A protein, mitochondrial (human)
def: "A methylmalonic aciduria type A, mitochondrial that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q8IVH4]
comment: Category=organism-gene.
synonym: "MMAA" RELATED Gene-based [UniProtKB:Q8IVH4]
synonym: "hMMAA" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:Q8IVH4
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000010912 ! methylmalonic aciduria type A, mitochondrial
relationship: has_gene_template HGNC:18871 ! MMAA (human)