Protein Ontology Report - MCCC2 PR:000010234 - http://purl.obolibrary.org/obo/PR_000010234

Ontology Information
PRO ID	PR:000010234 Show OBO stanza / PAF
PRO name	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Synonyms	PRO-short-label: MCCC2 EXACT: 3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; MCCase subunit beta Gene-based: MCCB
Definition	A protein that is a translation product of the human MCCC2 gene or a 1:1 ortholog thereof. [PRO:DNx]
PRO Category	gene
Parent	PR:000000001 protein
Terms by PRO Category	Retrieve All terms OBO Stanza / PAF Organism-Independent Organism-Specific Category Number of Terms Category Number of Terms gene 1 organism-gene 7 sequence 1 organism-sequence 9 modification 1 organism-modification 1 union 0
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Interactive Sequence View Select/align proteoforms across species

Protein Forms Display Category: All All gene organism-gene sequence organism-sequence modification organism-modification
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

MCCC2 forms found in complexes
MCCC2 Component Complexes PR:Q3ULD5 mMCCC2 PR:000025760 methylcrotonoyl-CoA carboxylase complex, mitochondrial (mouse)

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 PR:000026122 hMCCC2/var:D172fs associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11170888 PR:000026121 hMCCC2/var:MCCB I437V associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649 has_agent SO:0001569 cryptic_splice_site_variant PMID:11181649 PR:000026120 hMCCC2/var:MCCB V339M Val-339, CHEBI:16044 associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649 PR:000026118 hMCCC2/var:MCCB S173L Ser-173, CHEBI:30006 associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649 PR:000026119 hMCCC2/var:MCCB E99Q Glu-99, CHEBI:30011 associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11181649

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