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Description

The SPG3A gene (atlastin GTPase 1) gene is located on chromosome 14q22.1. The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:51062] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
SPG3A gene
Part Display Name
SPG3A gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-10-28
Construct for LOINC Short Name
SPG3A gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34679-8
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Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)SPG3A 基因
Synonyms: AD-FSP;atlastin;atlastin 蛋白;FSP1;G 蛋白;GBP3;SPG3;痉挛性截瘫 3A;遗传性痉挛性截瘫 3A;鸟苷酸结合蛋白 3 基因
et-EEEstonian (Estonia)SPG3A geen
es-ESSpanish (Spain)Gen PG3A
it-ITItalian (Italy)SPG3A, gene
Synonyms: Gene SPG3A
tr-TRTurkish (Turkey)SPG3A geni
ru-RURussian (Russian Federation)SPG3A ген
nl-NLDutch (Netherlands)SPG3A-gen
Synonyms: SPG3A gen
fr-FRFrench (France)SPG3A gène
pl-PLPolish (Poland)SPG3A gen
Synonyms: Gen SPG3A;Gen ATL1
el-GRGreek (Greece)Γονίδιο SPG3A
Synonyms: Γονίδιο SPG3A