[Term]
id: PR:000026123
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that results from a nucleotide change leading to skipping of exon 3, frameshift, and early truncation of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11170888, PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC2/var:MCCB IVS3+5G->T" EXACT PRO-short-label [PRO:DNx]
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens