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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 human .
Ontology Information
PRO ID PR:Q9HCC0 Show OBO stanza / PAF
PRO name methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
Alternate ID PR:000026109
Synonyms
PRO-short-label: hMCCC2
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
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


Interactive Sequence View Select/align proteoforms across species

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

Functional Annotation
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
has_agent SO:0001587 stop_gained PMID:11170888
PR:000026122
hMCCC2/var:MCCB D172fs
associated_with_disease_progression DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency PMID:11170888
has_agent SO:0001587 stop_gained 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
has_agent SO:0001606 amino_acid_substitution 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
has_agent SO:0001606 amino_acid_substitution 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
has_agent SO:0001606 amino_acid_substitution PMID:11181649

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