PITHD1
Description
The PITHD1 (PITH domain containing 1) is a protein-coding gene located on chromosome 1.
PITHD1 promotes the development of megakaryocytes, cells responsible for producing platelets, by increasing the levels of RUNX1 protein. It achieves this by activating the RUNX1 gene's promoter region and enhancing the translation of RUNX1 mRNA using an internal ribosome entry site (IRES).
PITHD1 is also known as C1orf128, HT014, TXNL1CL.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 72
- spermatogenic failure 27
- spermatogenic failure 46
- spermatogenic failure 18
- spermatogenic failure 65
- spermatogenic failure 19
- spermatogenic failure 43
- spermatogenic failure 45
- spermatogenic failure 49
- spermatogenic failure 42
- spermatogenic failure, X-linked, 3
- spermatogenic failure 40
- spermatogenic failure 51
- spermatogenic failure 39
- spermatogenic failure 47
- spermatogenic failure 10
- spermatogenic failure 11
- spermatogenic failure 24
- spermatogenic failure 41
- spermatogenic failure 20
- spermatogenic failure 7
