人 DNAAF3 (NM_178837) cDNA克隆

Accession: NM_178837
基因名称: DNAAF3
基因别名: PCD; DAB1; PF22; CILD2; C19orf51
基因描述: Homo sapiens dynein, axonemal, assembly factor 3 (DNAAF3), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1767 (查看编码区序列)
翻译后氨基酸长度: 588 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
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G149927 人 DNAAF3 (NM_178837) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]