Protein Ontology Report - hMCCC2 PR:Q9HCC0 - http://purl.obolibrary.org/obo/PR_Q9HCC0

This page represents a class of proteins encompassing all the protein products of the MCCC2 gene in Homo sapiens.

Ontology Information
PRO ID	PR:Q9HCC0 Show OBO stanza / PAF / GPI
PRO name	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
Synonyms	PRO-short-label: EXACT: hMCCC2 Gene-based: RELATED: MCCB | MCCC2 Other: EXACT: 3-methylcrotonyl-CoA carboxylase 2 (human) | 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit (human) | 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta (human) | MCCase subunit beta (human)
Definition	A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial that is encoded in the genome of human. The human MCCC2 gene contains 17 exons, and maps to the chromosomal location 5q12-q13. [PMID:11170888, PRO:CNA]
PRO Category	organism-gene
Parent	PR:000010234 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Gene Template	HGNC:6937 MCCC2
Taxon	NCBITaxon:9606 Homo sapiens
Terms by PRO Category	Retrieve All terms OBO Stanza / PAF Organism-Specific Category Number of Terms organism-gene 1 organism-sequence 9 organism-modification 1
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	UniProtKB:Q9HCC0

Interactive Sequence View Select/align proteoforms across species

Protein Forms Display Category: All All organism-gene organism-sequence organism-modification
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 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

top