MSH6

MSH6
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2O8F, 2GFU, 2O8B, 2O8C, 2O8D, 2O8E
Dynodwyr
Cyfenwau	MSH6, mutS homolog 6, GTBP, GTMBP, HNPCC5, HSAP, p160, MMRCS3, MSH-6
Dynodwyr allanol	OMIM: 600678 HomoloGene: 149 GeneCards: MSH6
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • DNA binding • protein homodimerization activity • mismatched DNA binding • ADP binding • chromatin binding • oxidized purine DNA binding • methylated histone binding • damaged DNA binding • ATPase activity • GO:0001948, GO:0016582 protein binding • single thymine insertion binding • four-way junction DNA binding • MutLalpha complex binding • double-stranded DNA binding • ATP binding • magnesium ion binding • single guanine insertion binding • guanine/thymine mispair binding • ATP-dependent activity, acting on DNA • enzyme binding Cydrannau o'r gell • Golgi apparatus • intracellular membrane-bounded organelle • MutSalpha complex • nucleoplasm • Cromosom • cnewyllyn cell • cytosol • mismatch repair complex Prosesau biolegol • determination of adult lifespan • cellular response to DNA damage stimulus • positive regulation of isotype switching • intrinsic apoptotic signaling pathway • maintenance of DNA repeat elements • positive regulation of helicase activity • somatic recombination of immunoglobulin gene segments • negative regulation of DNA recombination • DNA mismatch repair • GO:0022415 viral process • GO:0100026 DNA repair • meiotic mismatch repair • intrinsic apoptotic signaling pathway in response to DNA damage • response to UV • somatic hypermutation of immunoglobulin genes • isotype switching • pyrimidine dimer repair • mitotic G2 DNA damage checkpoint signaling • negative regulation of DNA endoreduplication • interstrand cross-link repair • replication fork arrest Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2956	n/a
Ensembl	ENSG00000116062	n/a
UniProt	P52701	n/a
RefSeq (mRNA)	NM_000179 NM_001281492 NM_001281493 NM_001281494	n/a
RefSeq (protein)	NP_000170 NP_001268421 NP_001268422 NP_001268423	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn MSH6 yw MSH6 a elwir hefyd yn DNA mismatch repair protein Msh6 a MutS homolog 6 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 2, band 2p16.3.^[2]

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn MSH6.

• "The polymorphisms of MSH6 gene are associated with AIDS progression in a northern Chinese population. ". Infect Genet Evol. 2016. PMID 27090025.
• "[A Family Affected by Lynch Syndrome Caused by MSH6 Germline Mutation]. ". Gan To Kagaku Ryoho. 2015. PMID 26805314.
• "Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic and hereditary colorectal and endometrial carcinomas. ". Am J Surg Pathol. 2015. PMID 26099011.
• "Constitutional mismatch repair-deficiency and whole-exome sequencing as the means of the rapid detection of the causative MSH6 defect. ". Klin Padiatr. 2014. PMID 25431869.
• "Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.". Fam Cancer. 2015. PMID 25380764.