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ATOX1

Synonyms
ATX1, HAH1
External resources
Summary
This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome.

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
1
Likely pathogenic
0
VUS
1,402
Likely benign
1
Benign
0

Patient phenotypes

Proportions of phenotypes among 1 patients carring pathogenic or likely pathogenic variants on ATOX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
100%
Abnormality of the cardiovascular system
100%
Abnormality of the eye
100%
Abnormality of the genitourinary system
100%
Abnormality of the immune system
100%
Abnormality of the musculoskeletal system
100%
Abnormality of the nervous system
100%
Abnormality of the respiratory system
100%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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