TBPL1
Description
The TBPL1 (TATA-box binding protein like 1) is a protein-coding gene located on chromosome 6.
TBPL1, or TATA box-binding protein-like protein 1, is a human protein encoded by the TBPL1 gene. It functions as a transcription factor, similar to TATA-binding protein (TBP), and can substitute for TBP at certain promoters not recognized by TFIID. TFIID is a complex of proteins that initiates transcription by RNA polymerase II. TBPL1 is crucial for sperm development and likely plays a role in the regulation of developmentally controlled genes. TBPL1 has been shown to interact with GTF2A1, another transcription factor.
TBPL1 is also known as MGC:8389, MGC:9620, STUD, TLF, TLP, TRF2.
Associated Diseases
- partial chromosome Y deletion
- spermatogenic failure 8
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failures 50
- spermatogenic failure 25
- spermatogenic failure 1
- spermatogenic failure 48
- isochromosomy Yp
- spermatogenic failure 22
- spermatogenic failure, X-linked, 2
- spermatogenic failure 63
- spermatogenic failure 61
- spermatogenic failure 73
- spermatogenic failure 74
- spermatogenic failure 51
- spermatogenic failure, X-linked, 3
- spermatogenic failure 40