Description

The SPG11 gene (spastic paraplegia 11 (autosomal recessive)) [HGNC Gene ID:11226] is located on chromosome 15q14. The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] [NCBI Gene ID:80208] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
SPG11 gene
Part Display Name
SPG11 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-02-28
Construct for LOINC Short Name
SPG11

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP207904-6

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)SPG11 基因
Synonyms: 痉挛性截瘫 11 (常染色体隐性);Spastic Paraplegia 11 (Autosomal Recessive)
es-ESSpanish (Spain)Gen SPG11
it-ITItalian (Italy)SPG11, gene
Synonyms: Gene SPG11
nl-NLDutch (Netherlands)SPG11-gen
Synonyms: SPG11 gen
fr-FRFrench (France)SPG11 gène
pl-PLPolish (Poland)SPG11 gen
Synonyms: Gen SPG11
el-GRGreek (Greece)Γονίδιο SPG11
Synonyms: Γονίδιο SPG11