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Chromosome 2 open reading frame 80 (C2orf80)
- Target
- C2orf80
- Molecular classification
- Other
01
Overview
Chromosome 2 open reading frame 80 (C2orf80) is a protein encoded by the C2orf80 gene in humans, with exclusive expression in the brain. Its precise physiological function is currently unknown, but studies suggest possible involvement in sex determination as well as cell division regulation. C2orf80 has been linked to disease contexts such as IDH-mutant gliomas and disorders of sex development, though causality has not been established. The protein contains predicted nuclear localization signals and post-translational modification sites, and may interact with kinases such as PRKD2. No drugs are known to target it directly, and it is not considered a characterized therapeutic target at present[1][7][11].
- Other names
- GONDA1gonad development associated 1LOC389073
02
Biological functions
Possible involvement in sex determinationPossible involvement in cell division regulationUnknown
03
Disease associations
Cancer (IDH-mutant glioma)Disorders of sex development (46,XY gonadal dysgenesis)Blood pressure regulationPeroxisome biogenesis disorder 2ALeukoencephalopathy with ovarian failure
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