APOO Chromosome X
Apolipoprotein O
Upload your DNA to see your personal genotypes for variants in APOO.
What This Gene Does
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]
Gene Info
Gene Group
"Apolipoproteins|Mitochondrial contact site and cristae organizing system subunits"
Locus Type
gene with protein product
Location
Xp22.11
Ensembl
ENSG00000184831
Associated Conditions (3)
Cognitive impairment and autistic features
X-linked recessive mitochondrial myopathy
Lactic acidosis
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149224639 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1925449605 | Health Risk | Pathogenic | Cognitive impairment and autistic features, X-linked recessive mitochondrial myopathy, Lactic acidosis |