Version 2.78

Description

The SNCA gene (synuclein, alpha (non A4 component of amyloid precursor)) [HGNC Gene ID:11138] is located on chromosome 4q21. Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Four alternatively spliced transcripts encoding two different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009] [NCBI Gene ID:6622] 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 Display Name
SNCA gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
SNCA gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19765-4
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19765-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SNCA 基因
Synonyms: Alpha-Synuclein 蛋白;Alpha-共核蛋白;Alpha-突触核蛋白;Alpha-突触蛋白;Alpha-突轴核蛋白;NACP;PARK1;Parkinson 病;PD1;α-Synuclein 蛋白（一种神经元特异性突触前膜蛋白，也是 Lewy 小体的重要组成分）;α-共核蛋白;α-突触核蛋白;α-突触蛋白;α-突轴核蛋白;巴金森病;帕金森氏病;帕金森病;淀粉样蛋白前体的非 A4 成分;淀粉状蛋白前体的非 A4 成分;突触核蛋白, alpha;突触核蛋白, α
et-EE Estonian (Estonia) SNCA geen
es-ES Spanish (Spain) Gen SNCA
it-IT Italian (Italy) SNCA, gene
Synonyms: Gene SNCA
tr-TR Turkish (Turkey) SNCA geni
ru-RU Russian (Russian Federation) SNCA ген
nl-NL Dutch (Netherlands) SNCA-gen
Synonyms: SNCA gen