LP199719-8
PMS2 gene
Active
Description
The PMS2 gene (PMS1 homolog 2, mismatch repair system component) [HGNC Gene ID:9122] is located on chromosome 7p22.1. This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer (also known as Lynch syndrome), Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID: 5395] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- PMS2 gene
- Part Display Name
- PMS2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-08-12
- Construct for LOINC Short Name
- PMS2 gene
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PMS2 基因 Synonyms: 错配修复核酸内切酶 PMS2; |
| tr-TR | Turkish (Turkey) | PMS2 geni |
| it-IT | Italian (Italy) | PMS2, gene Synonyms: Gene PMS2 |
| es-ES | Spanish (Spain) | Gen PMS2 |
| nl-NL | Dutch (Netherlands) | PMS2-gen Synonyms: PMS2 gen |
| el-GR | Greek (Greece) | Γονίδιο PMS2 Synonyms: Γονίδιο PMS2 |
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