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CES4A

Synonyms
CES6, CES8
External resources
Summary
This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
29
Likely pathogenic
0
VUS
2,296
Likely benign
125
Benign
0

Patient Phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on CES4A gene are displayed below. The following symptoms were found in patients with a variant in CES4A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
34.5%
Abnormality of the musculoskeletal system
31%
Abnormality of the nervous system
27.6%
Abnormality of head or neck
20.7%
Abnormality of the ear
17.2%
Abnormality of limbs
13.8%
Abnormality of the cardiovascular system
10.3%
Abnormality of the genitourinary system
10.3%
Growth abnormality
10.3%
Abnormality of the integument
6.9%
Neoplasm
6.9%
Abnormality of metabolism homeostasis
3.4%
Abnormality of the digestive system
3.4%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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