rs35181923

This variant is located in the ACAD8 gene.

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GWAS Catalog Trait Associations (1)

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

isobutyrylcarnitine measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele C

OR 0.65

p 2.0e-15

N 9,017

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

not specified; Deficiency of isobutyryl-CoA dehydrogenase; not provided

View on ClinVar →

About ACAD8

This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]

View all ACAD8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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