rs113981850

This variant is located in the CRAT gene.

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ClinVar annotation

Likely Benign★★★☆

3 submitters2 publications

not provided; Neurodegeneration with brain iron accumulation 8

About CRAT

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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