LP208431-9
NBN gene
Active
Description
The NBN gene (nibrin) [HGNC Gene ID:7652] is located on chromosome 8q21. Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4683] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- NBN gene
- Part Display Name
- NBN gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- NBN
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NBN 基因 Synonyms: Nibrin; |
| es-ES | Spanish (Spain) | Gen NBN |
| it-IT | Italian (Italy) | NBN, gene Synonyms: Gene NBN |
| nl-NL | Dutch (Netherlands) | NBN-gen Synonyms: NBN gen |
| fr-FR | French (France) | NBN gène |
| pl-PL | Polish (Poland) | NBN gen Synonyms: Gen NBN |
| el-GR | Greek (Greece) | Γονίδιο NBN Synonyms: Γονίδιο NBN |
LOINC Copyright
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