LP36764-6
NEB gene
Active
Description
The NEB gene (nebulin) [HGNC Gene ID:7720] is located on chromosome 2q22. This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] [NCBI Gene ID:4703] 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
- NEB gene
- Part Display Name
- NEB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-03-14
- Construct for LOINC Short Name
- NEB 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) | NEB 基因 Synonyms: DKFZp686C1456; |
| es-ES | Spanish (Spain) | Gen NEB |
| it-IT | Italian (Italy) | NEB, gene Synonyms: Gene NEB |
| et-EE | Estonian (Estonia) | NEB geen |
| tr-TR | Turkish (Turkey) | NEB geni |
| ru-RU | Russian (Russian Federation) | NEB ген |
| nl-NL | Dutch (Netherlands) | NEB-gen Synonyms: NEB gen |
| el-GR | Greek (Greece) | Γονίδιο NEB Synonyms: Γονίδιο NEB |
LOINC Copyright
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