人 PNKD (NM_001077399) cDNA克隆

Accession: NM_001077399
基因名称: PNKD
基因别名: MR1; PDC; DYT8; FPD1; MR-1; BRP17; PKND1; FKSG19; TAHCCP2; KIPP1184
基因描述: Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 3, mRNA.
种属: Human
CDS区长度: 429 (查看编码区序列)
翻译后氨基酸长度: 142 (查看氨基酸序列)
Transcript Variant: This variant (3), alternately referred to as the short form (MR-1S), differs in the 3' UTR and has multiple coding region differences, compared to variant 1. This results in a frameshift in isoform 3, which has a distinct C-terminus and is shorter than isoform 1.
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G101404 人 PNKD (NM_001077399) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]