rs137852769

This is a variant in the HADHA gene that changes a glutamate to an glutamine.

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GWAS Catalog Trait Associations (2)

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

X-16580 measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele C

OR 0.89

p 2.0e-12

N 14,296

Large GWAS

European

3-hydroxylaurate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele C

OR 0.77

p 9.0e-10

N 14,296

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

30 submitters30 publications

HADHA-related disorder; Inborn genetic diseases; LCHAD deficiency with maternal acute fatty liver of pregnancy; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency; Mitochondrial trifunctional protein deficiency 1 (MTPD1); not specified

View on ClinVar →

About HADHA

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]