rs1925449605

This variant is located in the APOO gene.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters1 publication

Cognitive impairment and autistic features;X-linked recessive mitochondrial myopathy;Lactic acidosis; not provided

About APOO

This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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