LP71376-5
SPAST gene
Active
Description
The SPAST gene (spastin) [HGNC Gene ID:11233] is located on chromosome 2p24-p21. This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6683] 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
- SPAST gene
- Part Display Name
- SPAST gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-09-26
- Construct for LOINC Short Name
- SPAST 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 SPAST |
| it-IT | Italian (Italy) | SPAST, gene Synonyms: Gene SPAST |
| et-EE | Estonian (Estonia) | SPAST geen |
| tr-TR | Turkish (Turkey) | SPAST geni |
| zh-CN | Chinese (China) | SPAST 基因 Synonyms: ADPSP; |
| ru-RU | Russian (Russian Federation) | SPAST ген |
| nl-NL | Dutch (Netherlands) | SPAST-gen Synonyms: SPAST gen |
| el-GR | Greek (Greece) | Γονίδιο SPAST Synonyms: Γονίδιο SPAST |
LOINC Copyright
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