人 CEP41 (NM_001257158) cDNA克隆

Accession: NM_001257158
基因名称: CEP41
基因别名: JBTS15; TSGA14
基因描述: Homo sapiens centrosomal protein 41kDa (CEP41), transcript variant 2, mRNA.
种属: Human
CDS区长度: 906 (查看编码区序列)
翻译后氨基酸长度: 301 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.
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G167752 人 CEP41 (NM_001257158) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]