CRAT Chromosome 9

Carnitine O-acetyltransferase
4 variants 4 Health Risk

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What This Gene Does
This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
Carnitine acyltransferases
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000095321
Associated Conditions (2)
Neurodegeneration with brain iron accumulation 8
Neurodegeneration with brain iron accumulation
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS138665095 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 8, Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation 8
RS140924757 Health Risk Conflicting classifications of pathogenicity
RS141081974 Health Risk Conflicting classifications of pathogenicity
RS145822836 Health Risk Conflicting classifications of pathogenicity
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