Y46G5A.17 is orthologous to the human gene SIMILAR TO CARNITINE PALMITOYLTRANSFERASE I, LIVER (CPT1A; OMIM:600528), which when mutated leads to disease.
Predicted to enable carnitine O-palmitoyltransferase activity. Predicted to be involved in carnitine metabolic process and fatty acid metabolic process. Predicted to be located in mitochondrion. Human ortholog(s) of this gene implicated in carnitine palmitoyltransferase I deficiency; hereditary spastic paraplegia 73; and lymphangioleiomyomatosis. Is an ortholog of human CPT1A (carnitine palmitoyltransferase 1A) and CPT1C (carnitine palmitoyltransferase 1C).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.