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ALDH3A1

Synonyms
ALDH3, ALDHIII
External resources
Summary
Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified.

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
49
Likely pathogenic
0
VUS
19,802
Likely benign
869
Benign
0

Patient phenotypes

Proportions of phenotypes among 49 patients carring pathogenic or likely pathogenic variants on ALDH3A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28.6%
Abnormality of the cardiovascular system
20.4%
Abnormality of the eye
20.4%
Abnormality of the ear
16.3%
Abnormality of head or neck
12.2%
Abnormality of the musculoskeletal system
12.2%
Abnormality of the integument
10.2%
Growth abnormality
8.2%
Abnormality of the genitourinary system
6.1%
Abnormality of limbs
4.1%
Abnormality of blood and blood-forming tissues
2%
Abnormality of the digestive system
2%
Abnormality of the immune system
2%
Abnormality of the voice
2%
Neoplasm
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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