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ACOX1

Synonyms
ACOX, MITCH, PALMCOX, SCOX
External resources
Summary
The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified.

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
5
Likely pathogenic
0
VUS
2,022
Likely benign
1,269
Benign
2,245

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on ACOX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
50%
Abnormality of the digestive system
50%
Abnormality of the eye
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of limbs
25%
Abnormality of prenatal development or birth
25%
Abnormality of the ear
25%
Abnormality of the integument
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary 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%
Growth abnormality
0%
Neoplasm
0%

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