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.[6]
ClinVar reports a missense mutation that produces an early stop codon (Trp392Ter) is associated with Meckel-like syndrome.[7]
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.[4]
