Home > Gene Browser > FAAH2

FAAH2

Synonyms
AMDD
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
33
Likely pathogenic
5
VUS
1,766
Likely benign
389
Benign
0

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on FAAH2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35.1%
Abnormality of the nervous system
32.4%
Abnormality of limbs
21.6%
Abnormality of the musculoskeletal system
21.6%
Abnormality of head or neck
18.9%
Abnormality of the digestive system
16.2%
Abnormality of the cardiovascular system
13.5%
Abnormality of the immune system
13.5%
Abnormality of the integument
13.5%
Growth abnormality
13.5%
Abnormality of the ear
10.8%
Abnormality of blood and blood-forming tissues
8.1%
Abnormality of prenatal development or birth
5.4%
Constitutional symptom
5.4%
Abnormality of the breast
2.7%
Abnormality of the endocrine system
2.7%
Abnormality of the genitourinary system
2.7%
Neoplasm
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes