CRAT Chromosome 9
Carnitine O-acetyltransferase
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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
RS138665095
Conflicting classifications of pathogenicity
Neurodegeneration with brain iron accumulation 8, Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation 8
Health Risk
RS140924757
Conflicting classifications of pathogenicity
Health Risk
RS141081974
Conflicting classifications of pathogenicity
Health Risk
RS145822836
Conflicting classifications of pathogenicity
Health Risk
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 | — |