人 CC2D2A (NM_001080522) cDNA克隆

Accession: NM_001080522
基因名称: CC2D2A
基因别名: MKS6; JBTS9
基因描述: Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.
种属: Human
CDS区长度: 4863 (查看编码区序列)
翻译后氨基酸长度: 1620 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
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G156554 人 CC2D2A (NM_001080522) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]