C12orf40 [SEP] found in taxon
approximately 60% sequence identity, suggesting that the gene may have arisen in the amniotes after their divergence from other tetrapods; the first 4 exons are conserved with 36% identity as distantly as the anemone.
Protein.
Protein Properties.
The human "C12orf40" protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric point 7.822. Amino acids 229-652 contain a domain of unknown function ("DUF4552") which is conserved in vertebrates. "C12orf40"
primarily in the testis, suggesting importance to the male reproductive system.
Protein Clinical significance.
The function of "C12orf40" is not yet well understood. However, the three prime untranslated region (3' UTR) of "C12orf40" is highly similar to the 3' UTR of the cystic fibrosis transmembrane conductance regulator (CFTR), which may mean that the two genes share certain expression patterns. In the fibroblasts of hypertrophic scars, exposure to the immunosuppressant Tacrolimus causes "C12orf40" up-regulation. In pigs,