人 GTF2A1L 抗体对
01AB02203
General transcription factor IIA subunit 1 like (GTF2A1L), also known as TFIIA-alpha and beta-like factor (ALF), is a protein encoded by the GTF2A1L gene located on chromosome 2. This protein acts as a germ cell-specific counterpart of the large subunit of general transcription factor TFIIA, playing a key role in the assembly and stability of the RNA polymerase II transcription pre-initiation complex. Specifically, GTF2A1L stabilizes the binding of the TATA-binding protein (TBP) to DNA, facilitating transcription initiation, and is involved uniquely in testis biology. Alternative splicing produces two distinct isoforms, and a rare fusion transcript (SALF) arises from co-transcription with a neighboring gene. Disease associations of GTF2A1L include Leydig cell hypoplasia (type 1), peripheral precocious puberty, 46,XY disorder of sex development, and aplasia cutis congenita-intestinal lymphangiectasia syndrome.
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技术参数
- 靶点基因名
- GTF2A1L
- 基因别名
- ALF; GTF2A1LF
- 蛋白别名
- general transcription factor IIA subunit 1 like; GTF2A1L
- UniProt
- Q9UNN4
- 物种
- Human
产品详情
- 靶点名称
- GTF2A1L
- 蛋白名称
- general transcription factor IIA subunit 1 like
- 蛋白别名
- TFIIA-alpha and beta-like factor; General transcription factor II A; 1-like factor
- 靶点基因名
- GTF2A1L
- 基因别名
- ALF; GTF2A1LF
- UniProt
- Q9UNN4
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
General transcription factor IIA subunit 1 like (GTF2A1L), also known as TFIIA-alpha and beta-like factor (ALF), is a protein encoded by the GTF2A1L gene located on chromosome 2. This protein acts as a germ cell-specific counterpart of the large subunit of general transcription factor TFIIA, playing a key role in the assembly and stability of the RNA polymerase II transcription pre-initiation complex. Specifically, GTF2A1L stabilizes the binding of the TATA-binding protein (TBP) to DNA, facilitating transcription initiation, and is involved uniquely in testis biology. Alternative splicing produces two distinct isoforms, and a rare fusion transcript (SALF) arises from co-transcription with a neighboring gene. Disease associations of GTF2A1L include Leydig cell hypoplasia (type 1), peripheral precocious puberty, 46,XY disorder of sex development, and aplasia cutis congenita-intestinal lymphangiectasia syndrome.