人 PMS1 (NM_001128143) cDNA克隆

Accession: NM_001128143
基因名称: PMS1
基因别名: PMSL1; hPMS1; HNPCC3
基因描述: Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2682 (查看编码区序列)
翻译后氨基酸长度: 893 (查看氨基酸序列)
Transcript Variant: This variant (2, also known as PMS1 nirs variant 7) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
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G100333 人 PMS1 (NM_001128143) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]