人 IFT43 (NM_001102564) cDNA克隆

Accession: NM_001102564
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 2, mRNA.
种属: Human
CDS区长度: 627 (查看编码区序列)
翻译后氨基酸长度: 208 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an exon and contains two alternate exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
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G103467 人 IFT43 (NM_001102564) 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]