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SCA18 spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) [ Homo sapiens (human) ]

Gene ID: 94008, updated on 2-Oct-2019

Summary

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Gene symbol
SCA18
Gene description
spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)
Primary source
MIM:607458
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMNA

Genomic context

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Location:
7q22-q32

Bibliography

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Related articles in PubMed

  1. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Brkanac Z, et al. Am J Med Genet, 2002 May 8. PMID 11992570
  2. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Brusco A, et al. Arch Neurol, 2004 May. PMID 15148151

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of genotype prevalence. (HuGE Navigator)
    Title: Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Submit: New GeneRIF Correction

Phenotypes

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spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

General gene information

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Property

  • phenotype only

Gene LinkOut

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Molecular Biology Databases