FAAH2


Fatty acid amide hydrolase 2 or FAAH2 is a member of the serine hydrolase family of enzymes.
Fatty acid amide hydrolase 2 degrades many types of fatty acid amides, including the sleep-inducing oleamide and endocannabinoids such as anandamide. It has a tissue distribution quite distinct from the paralogous FAAH. Compared to FAAH, it is less active on N-acyl ethanolamines and N-acyl taurines.
OrthoDB indicates that FAAH2 has orthologs all across Metazoa, with the notable exclusion of rodents. This complicates the translation of FAAH-related results from rodent models to human biology.

Clinical significance

Defects in this enzyme have been associated with neurologic and psychiatric disorders. Specifically, a Canadian male with autism, anxiety, severe dysarthria, and a number of other issues have a Ala458Ser mutation inherited from his healthy carrier mother. In cell models this mutation is associated with a decreased function of this gene. This patient has a very abnormal blood lipid composition consistent with a loss of function.
ClinVar reports a missense mutation that produces an early stop codon is associated with Meckel-like syndrome.
UniProt Variant Viewer lists a large number of other variants found in surveyed human genomes. Several are predicted to have consequences by PolyPhen and/or SIFT.