人 CCDC40 (NM_017950) cDNA克隆

Accession: NM_017950
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 1, mRNA.
种属: Human
CDS区长度: 3429 (查看编码区序列)
翻译后氨基酸长度: 1142 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). There are no publicly available full-length transcripts representing this variant, but it is supported by partial transcript alignments and by data in PMID:21131974.
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G118965 人 CCDC40 (NM_017950) 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]