- 商品货号:F112459
- accession:NM_000449
- 基因别名:RFX5
- 基因描述:Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:1851
- 翻译后氨基酸长度:616
- TranscriptVariant:This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
- 基因简介:A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
- 载体信息:自有图片地址
- 规格:10ul 质粒
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