Gene

MCCC1

Species
Homo sapiens
Symbol
MCCC1
Name
methylcrotonyl-CoA carboxylase subunit 1
Synonyms
  • 3-methylcrotonyl-CoA carboxylase 1
  • 3-methylcrotonyl-CoA carboxylase biotin-containing subunit
Biotype
protein coding gene
Automated Description
Contributes to methylcrotonoyl-CoA carboxylase activity. Predicted to be involved in L-leucine catabolic process. Located in mitochondrial matrix. Part of methylcrotonoyl-CoA carboxylase complex. Implicated in 3-methylcrotonyl-CoA carboxylase 1 deficiency.
RGD Description
This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18866
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
183.02M183.03M183.04M183.05M183.06M183.07M183.08M183.09M183.10M183.11M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions