LP71442-5
KIAA0196 gene
Active
Description
The KIAA0196 gene (KIAA0196) [HGNC Gene ID:28984] is located on chromosome 8q24.13. This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009] [NCBI Gene ID:9897] 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
- KIAA0196 gene
- Part Display Name
- KIAA0196 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- KIAA0196 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 |
|---|---|---|
| es-ES | Spanish (Spain) | Gen KIAA0196 |
| it-IT | Italian (Italy) | KIAA0196, gene Synonyms: Gene KIAA0196 |
| et-EE | Estonian (Estonia) | KIAA0196 geen |
| zh-CN | Chinese (China) | KIAA0196 基因 Synonyms: MGC111053; |
| tr-TR | Turkish (Turkey) | KIAA0196 geni |
| ru-RU | Russian (Russian Federation) | KIAA0196 ген |
| nl-NL | Dutch (Netherlands) | KIAA0196-gen Synonyms: KIAA0196 gen |
| el-GR | Greek (Greece) | Γονίδιο KIAA0196 Synonyms: Γονίδιο KIAA0196 |
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