SPCA12

SPCA12 is a gene that belongs to the SPCA (spermatogenesis-associated protein with calponin homology) family. It is located on the short arm of chromosome 17 in humans (17p13.1). The SPCA12 gene encodes a protein that is involved in spermatogenesis, the process by which sperm cells are produced in the male reproductive system.

The protein encoded by SPCA12 is a member of the SPCA family, which includes several proteins that share a common domain structure. These proteins are involved in various cellular processes, including cell division, cell migration, and cell signaling. The exact function of SPCA12 in spermatogenesis is not fully understood, but it is thought to play a role in the differentiation and maturation of sperm cells.

Mutations in the SPCA12 gene have been associated with male infertility. These mutations can lead to a condition known as non-obstructive azoospermia, which is characterized by the absence of sperm in the ejaculate despite normal semen volume and normal sperm morphology. The underlying mechanism of how SPCA12 mutations cause infertility is not fully understood, but it is thought to be related to the protein's role in spermatogenesis.

SPCA12 is expressed in the testes, where it is found in the seminiferous tubules, the site of sperm production. The expression pattern of SPCA12 suggests that it is involved in the differentiation of spermatogonial stem cells into spermatocytes, which are the precursor cells to sperm cells.

In summary, SPCA12 is a gene that encodes a protein involved in spermatogenesis. Mutations in SPCA12 have been linked to male infertility, and the protein is expressed in the testes. Further research is needed to fully understand the function of SPCA12 and its role in spermatogenesis.