TMEM249
Description
The TMEM249 (transmembrane protein 249) is a protein-coding gene located on chromosome 8.
TMEM249 is a protein encoded by the C8orfk29 gene in humans. It is located near the end of the long arm of chromosome 8. The protein has five known spliceforms, with four being very similar and the fifth lacking a large 5' intron region. TMEM249 has a large 5' UTR followed by exon 1, then a large intron, exon 2, a small intron, exon 3, and so on. The primary transcript contains all five exons and produces a protein that is 235 amino acids long. Transcripts 1 and 2 are translated in the 3' to 5' direction, while transcripts 3 through 5 are translated in the 5' to 3' direction. The gene is encoded on the minus strand within the chromosome. The only known paralog of human TMEM249 is found in the second isoform of the protein in gorillas.
TMEM249 is an auxiliary component of the CatSper complex, which plays a crucial role in sperm cell hyperactivation.
TMEM249 is also known as C8ORFK29.
Associated Diseases
- epidermolysis bullosa simplex with nail dystrophy
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 3
- partial chromosome Y deletion
- spermatogenic failure 7
- spermatogenic failure 49
- spermatogenic failure 43
- spermatogenic failure 19
- spermatogenic failure 45
- spermatogenic failure 63
- spermatogenic failure 18
- spermatogenic failure 46
- spermatogenic failure 27
- spermatogenic failure 11
- spermatogenic failure 10
- spermatogenic failure 29
- spermatogenic failure 72
- spermatogenic failure 47
- spermatogenic failure 65
- spermatogenic failure 40
- spermatogenic failure, X-linked, 3
- spermatogenic failure 70
- spermatogenic failure 41
- spermatogenic failure 42
