LP34973-5
MSH6 gene
Active
Description
The MSH6 gene (mutS homolog 6) [HGNC Gene ID:7329] is located on chromosome 2p16. This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] [NCBI Gene ID:2956] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- MSH6 gene
- Part Display Name
- MSH6 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-01-03
- Construct for LOINC Short Name
- MSH6 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MSH6 基因 Synonyms: G/T 错配-结合蛋白（G/T mismatch-binding protein， |
| et-EE | Estonian (Estonia) | MSH6 geen |
| es-ES | Spanish (Spain) | Gen MSH6 |
| it-IT | Italian (Italy) | MSH6, gene Synonyms: Gene MSH6 |
| tr-TR | Turkish (Turkey) | MSH6 geni |
| ru-RU | Russian (Russian Federation) | MSH6 ген |
| nl-NL | Dutch (Netherlands) | MSH6-gen Synonyms: MSH6 gen |
LOINC Copyright
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