MLH1 - Wikipedia
DNA mismatch repair protein Mlh1 or MutL protein homolog 1 is a protein that in humans is encoded by the MLH1 gene located on chromosome 3. The gene is commonly associated with hereditary nonpolyposis colorectal cancer. Orthologs of human MLH1 have also been studied in other organisms including mouse and the budding yeast Saccharomyces cerevisiae.
About Mutations in the MLH1 Gene - Memorial Sloan Kettering Cancer Center
2023年7月12日 · What does an MLH1 mutation mean for my blood relatives? If you have a mutation, your biological parents, siblings, and children each have a 50% chance of having the same mutation. Your distant family members may also be at risk for having the same mutation. Males and females have an equal chance of passing down a mutation in their family.
MLH1 gene - MedlinePlus
The MLH1 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division. The MLH1 protein joins with another protein called PMS2 (produced from the PMS2 gene), to form a two-protein complex called a ...
MLH1 Gene - GeneCards | MLH1 Protein | MLH1 Antibody
2024年12月10日 · MLH1 is a tumor suppressor gene involved in DNA mismatch repair. Germline mutations in this gene are known to cause Lynch syndrome. The most common malignancies in Lynch syndrome are colorectal and endometrial carcinomas. In addition to germline mutations, somatic mutations in this gene have been described in colorectal and endometrial cancers.
MLH1基因甲基化检测的应用与思考 - 知乎 - 知乎专栏
MLH1基因启动子区甲基化是结直肠癌（CRC）和子宫内膜癌（EC）常见的表观遗传改变，甲基化导致基因沉默，从而导致微卫星不稳定（MSI-H）。 通常，MLH1高度甲基化被认为是癌症中的散发性事件，其检测被认为是区分散发性和遗传性疾病（林奇综合征）的有用工具。 其在子宫内膜癌的诊疗中，亦有一些扩展性的应用。 MLH1甲基化在林奇综合征筛查中的应用. 林奇综合征也称为遗传性非息肉病性结直肠癌（HNPCC）综合征（OMIM 120435），约占所有CRC …
MLH1 mutL homolog 1 [Homo sapiens (human)] - Gene - NCBI
2024年12月10日 · MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
MLH1阳性是什么意思 - 有来医生
2023年11月20日 · mlh1为一种dna错配修复基因，阳性突变后会导致细胞错配修复功能缺陷，产生微卫星不稳定性，与细胞突变或癌变密切相关。 可以是正常细胞表达，也可用于预测化疗药物应答、肿瘤的筛查与诊断。
4292 - Gene ResultMLH1 mutL homolog 1 [ (human)] - National …
DNA mismatch repair protein Mlh1, mutL homolog 1, colon cancer, nonpolyposis type 2. GeneRIFs: Gene References Into Functions. MLH1 Inhibits Metastatic Potential of Pancreatic Ductal Adenocarcinoma via Downregulation of GPRC5C. [Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].
The MLH1 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division.
MLH1 mutL homolog 1 - NIH Genetic Testing Registry (GTR) - NCBI
2024年3月5日 · Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger. MLH1 Loss in Primary Prostate Cancer.