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ACOX2

Synonyms
BCOX, BRCACOX, BRCOX, CBAS6, THCCox
External resources
Summary
The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children.

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
39
Likely pathogenic
5
VUS
4,458
Likely benign
808
Benign
0

Patient phenotypes

Proportions of phenotypes among 43 patients carrying pathogenic or likely pathogenic variants on ACOX2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.2%
Abnormality of the musculoskeletal system
20.9%
Abnormality of the cardiovascular system
18.6%
Abnormality of the eye
16.3%
Abnormality of the ear
14%
Abnormality of head or neck
11.6%
Growth abnormality
11.6%
Abnormality of the immune system
9.3%
Abnormality of blood and blood-forming tissues
7%
Abnormality of limbs
7%
Abnormality of the genitourinary system
7%
Abnormality of the integument
7%
Abnormality of prenatal development or birth
4.7%
Abnormality of the digestive system
4.7%
Neoplasm
4.7%
Abnormal cellular phenotype
2.3%
Abnormality of the endocrine system
2.3%
Abnormality of the respiratory system
2.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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