The gene pm20d1 encodes a protein that functions as an N-acyl amino acid synthase enzyme, which catalyzes the condensation of fatty acyl-CoAs and amino acids to produce N-acyl amino acids. These N-acyl...[+]

The gene pm20d1 encodes a protein that functions as an N-acyl amino acid synthase enzyme, which catalyzes the condensation of fatty acyl-CoAs and amino acids to produce N-acyl amino acids. These N-acyl amino acids act as endogenous uncouplers of mitochondrial oxidative phosphorylation, influencing energy expenditure. The protein is localized to the mitochondria. Expression is detected in the brain, spinal cord, retina, and neural tube during development. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD