人 MLH3 (NM_014381) cDNA克隆

Accession: NM_014381
基因名称: MLH3
基因别名: HNPCC7
基因描述: Homo sapiens mutL homolog 3 (MLH3), transcript variant 2, mRNA.
种属: Human
CDS区长度: 4290 (查看编码区序列)
翻译后氨基酸长度: 1429 (查看氨基酸序列)
Transcript Variant: This variant (2), also known as delta7, lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
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G124702 人 MLH3 (NM_014381) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]