ACTRT1
Description
The ACTRT1 (actin related protein T1) is a protein-coding gene located on chromosome X.
ACTRT1 negatively regulates the Hedgehog (SHH) signaling pathway by binding to the promoter of the SHH signaling mediator, GLI1, and inhibiting its expression.
ACTRT1 is also known as AIP1, ARIP1, ARPT1, HSD27.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failure 20
- spermatogenic failure 72
- spermatogenic failure 27
- spermatogenic failure 46
- spermatogenic failure 18
- spermatogenic failure 51
- spermatogenic failure 42
- spermatogenic failure 5
- spermatogenic failure, X-linked, 3
- spermatogenic failure 43
- spermatogenic failure 49
- spermatogenic failure 45
- spermatogenic failure 19
- spermatogenic failure 65
- spermatogenic failure 39
- spermatogenic failure 40
- spermatogenic failure 24
- spermatogenic failure 31
- spermatogenic failure 26
- spermatogenic failure 47
- spermatogenic failure 41
