GTF2A1L
Description
The GTF2A1L (general transcription factor IIA subunit 1 like) is a protein-coding gene located on chromosome 2.
The GTF2A1L gene encodes a protein known as TFIIA-alpha and beta-like factor. This protein plays a role in the assembly and stability of the RNA polymerase II transcription pre-initiation complex, a critical step in gene expression. It is specifically involved in the interaction between TATA-binding protein (TBP) and DNA, facilitated by the influence of TFIIA. The GTF2A1L gene produces a germ cell-specific counterpart of the larger subunit of the general transcription factor TFIIA. This counterpart has the ability to stabilize the binding of TBP to DNA, potentially having a unique significance in testis biology. Alternative splicing has been observed for this gene, resulting in two variants that encode distinct isoforms. Notably, co-transcription of GTF2A1L and its neighboring upstream gene leads to the production of a rare transcript called SALF, which encodes a fusion protein consisting of sequences shared with both individual gene products.
This protein may function as a testis-specific transcription factor. It binds to DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein). Together with GTF2A2, it enables mRNA transcription.
GTF2A1L is also known as ALF.
Associated Diseases
- Leydig cell hypoplasia, type 1
- peripheral precocious puberty
- Leydig cell hypoplasia
- 46,XY disorder of sex development
- aplasia cutis congenita-intestinal lymphangiectasia syndrome
