人 IFT43 (NM_001255995) cDNA克隆

Accession: NM_001255995
基因名称: IFT43
基因别名: CED3; C14orf179
基因描述: Homo sapiens intraflagellar transport 43 homolog (Chlamydomonas) (IFT43), transcript variant 3, mRNA.
种属: Human
CDS区长度: 342 (查看编码区序列)
翻译后氨基酸长度: 113 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
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G103469 人 IFT43 (NM_001255995) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]