FAAH2 Chromosome X
Fatty acid amide hydrolase 2
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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
RS201024763
Conflicting classifications of pathogenicity
Health Risk
RS368527435
Conflicting classifications of pathogenicity
Health Risk
RS769942516
Conflicting classifications of pathogenicity
Health Risk
RS1333565102
Pathogenic
Meckel-like syndrome, Meckel-like syndrome
Health Risk
RS1555959573
Pathogenic
Health Risk
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 | — |