FAAH2 Chromosome X

Fatty acid amide hydrolase 2
5 variants 5 Health Risk

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What This Gene Does
This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
N-arachidonoylethanolamine hydrolases
Locus Type
gene with protein product
Location
Xp11.21
Ensembl
ENSG00000165591
Associated Conditions (1)
Meckel-like syndrome
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS201024763 Health Risk Conflicting classifications of pathogenicity
RS368527435 Health Risk Conflicting classifications of pathogenicity
RS769942516 Health Risk Conflicting classifications of pathogenicity
RS1333565102 Health Risk Pathogenic Meckel-like syndrome, Meckel-like syndrome
RS1555959573 Health Risk Pathogenic
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