rs4859275

This is a intron variant variant in the MCCC1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cerebrospinal fluid composition attribute, beta-hydroxyisovaleroylcarnitine measurement

Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)

Allele A

OR 0.03

p 3.0e-16

N 2,311

Large GWAS

European

About MCCC1

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]

View all MCCC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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