人 MCPH1 (NM_001172574) cDNA克隆

Accession: NM_001172574
基因名称: MCPH1
基因别名: MCT; BRIT1
基因描述: Homo sapiens microcephalin 1 (MCPH1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1833 (查看编码区序列)
翻译后氨基酸长度: 610 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
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G113522 人 MCPH1 (NM_001172574) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]