Protein Ontology Report - hMCCC2/var:MCCB IVS3+5G->T PR:000026123 - http://purl.obolibrary.org/obo/PR_000026123

Ontology Information
PRO ID	PR:000026123 Show OBO stanza / PAF / GPI
PRO name	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)
Synonyms	PRO-short-label: EXACT: hMCCC2/var:MCCB IVS3+5G->T
Definition	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]
PRO Category	organism-sequence
Parent	PR:000026117 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
Taxon	NCBITaxon:9606 Homo sapiens
Term Hierarchy Visualization	DAG     OLS     Cytoscape

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PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation PRO Centric View GO Centric View
PRO Term GO Annotation Evidence PR:000026123 hMCCC2/var:MCCB IVS3+5G->T associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11170888

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