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HAO1

Synonyms
GOX, GOX1, HAOX1
External resources
Summary
This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site.

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
9
Likely pathogenic
0
VUS
2,715
Likely benign
80
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on HAO1 gene are displayed below. The following symptoms were found in patients with a variant in HAO1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
33.3%
Abnormality of the eye
33.3%
Abnormality of the nervous system
33.3%
Abnormality of limbs
22.2%
Abnormality of the cardiovascular system
22.2%
Abnormality of the musculoskeletal system
22.2%
Growth abnormality
22.2%
Abnormality of head or neck
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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