Chromosome 3 open reading frame 62 (C3orf62)

Chromosome 3 open reading frame 62 (C3orf62), also known as male pachynema-specific protein (MAPS), is an uncharacterized, glycine-depleted protein encoded on chromosome 3p21.31 in humans[1][3]. The protein is 267 amino acids in its canonical isoform and is predicted to localize predominantly in the nucleus[3]. C3orf62 (MAPS) is highly conserved in mammals but has no close paralogs[3]. Its biological role is associated with **meiotic progression in spermatocytes**—it is essential for the progression of the pachytene stage of meiosis in male germ cells, required for chromatin organization, sex body formation, and correct compartmentalization of the nucleus[2][4]. Deficiency or mutation of this protein results in meiotic arrest and is linked to male infertility in mice and potentially in humans (nonobstructive azoospermia)[2][4]. While C3orf62 is expressed in over 30 human tissues (most highly in blood, but also in lung, tonsil, intestine, glandular tissue), its function outside of germline development is not well understood[3]. There is no evidence categorizing C3orf62 as a therapeutic target such as an enzyme, receptor, transporter, or transcription factor. Some chemicals (including aflatoxin B1, hydralazine, valproic acid, and decitabine) are reported to interact with C3orf62, but no drugs have been demonstrated to act through targeting it clinically[3]. Deletions in the gene region can associate with syndromic developmental delay, but there are no biomarkers or safety concerns established for C3orf62 targeting or therapeutic use.

Other names

FLJ43654MAPSMale pachynema-specific proteinCC062ENSG00000188315

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