人 MKS1 (NM_017777) cDNA克隆

Accession: NM_017777
基因名称: MKS1
基因别名: MES; MKS; BBS13; POC12
基因描述: Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1680 (查看编码区序列)
翻译后氨基酸长度: 559 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
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G106323 人 MKS1 (NM_017777) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]