人 PQBP1 (NM_001167989) cDNA克隆

Accession: NM_001167989
基因名称: PQBP1
基因别名: SHS; MRX55; MRXS3; MRXS8; NPW38; RENS1
基因描述: Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 8, mRNA.
种属: Human
CDS区长度: 795 (查看编码区序列)
翻译后氨基酸长度: 264 (查看氨基酸序列)
Transcript Variant: This variant (8) differs in the 5' UTR and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter by 1 aa when it is compared to isoform 1.
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G118394 人 PQBP1 (NM_001167989) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]