Chromosome 22 open reading frame 23 (C22orf23)

Chromosome 22 open reading frame 23 (C22orf23) is a human protein encoded by the C22orf23 gene located at 22q13.1, spanning 10,620 base pairs. The protein is 217 amino acids in length, predicted to be a globular, intracellular protein without known transmembrane domains, primarily located in the nucleus. It is expressed in many tissues, with the highest levels in the testes, but also detected at low levels in the brain, kidney, stomach, skin, thyroid, urinary bladder, and reproductive organs. Functional studies primarily suggest a role in protein binding, and several protein–protein interactions are predicted, including interactions with cyclin-D1-binding protein 1 (cell cycle regulation), vacuolar protein sorting-associated protein 28, and estrogen related receptor gamma. C22orf23 has no known paralogs but is evolutionarily conserved across vertebrates and some invertebrates and fungi, indicating a conserved biological function. Disease associations are limited and largely correlative, with some studies linking mutations or altered expression to cancers (eg, breast cancer), demyelinating disorders, Waardenburg syndrome, cardiovascular disease, schizophrenia, and uterine leiomyoma. However, there is no evidence that C22orf23 is a direct therapeutic target, nor are there any known drugs, clinical biomarkers, or mechanism-of-action data associated with modulation of this protein.

Other names

C22orf23EVG1UPF0193 protein EVG1FLJ32787LOC84645dJ1039K5.6