rs150792109
This variant is located in the CPT1A gene.
▶ClinVar annotation
not specified; Carnitine palmitoyl transferase 1A deficiency; CPT1A-related disorder; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Sarcoma; Thyroid cancer, nonmedullary, 1; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma
View on ClinVar →About CPT1A
The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all CPT1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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