Version 2.80

Description

The SCA2 gene (ataxin 2) gene is located on chromosome 12q24.1. The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010] [NCBI Gene ID:6311] 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
SCA2 gene
Part Display Name
SCA2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-16
Construct for LOINC Short Name
SCA2 gene

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33186-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SCA2 基因
Synonyms: Ataxia-2;Ataxin 2;ATX2;SCA;共济失调-2;共济失调蛋白 2;失调症蛋白质 2;橄榄-桥脑-小脑共济失调 2;橄榄体桥脑小脑共济失调 2;橄榄核桥脑小脑共济失调 2;橄榄桥脑小脑共济失调 2;脊髓小脑共济失调;脊髓小脑性共济失调;遗传性脊髓小脑共济失调