人 CCDC40 (NM_001243342) cDNA克隆

Accession: NM_001243342
基因名称: CCDC40
基因别名: CILD15; FAP172
基因描述: Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3093 (查看编码区序列)
翻译后氨基酸长度: 1030 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
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G118966 人 CCDC40 (NM_001243342) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]