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SCAR3 spinocerebellar ataxia, autosomal recessive 3 [ Homo sapiens (human) ]

Gene ID: 85502, updated on 2-Oct-2019

Summary

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Gene symbol
SCAR3
Gene description
spinocerebellar ataxia, autosomal recessive 3
Primary source
MIM:271250
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCABD

Genomic context

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Location:
6p23-p21

Bibliography

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Related articles in PubMed

  1. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Bomont P, et al. Eur J Hum Genet, 2000 Dec. PMID 11175288
  2. Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). Guissart C, et al. Eur J Hum Genet, 2016 Aug. PMID 26669662, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Despite false linkage in the initial family, SCABD1/SCAR3 is located in 6p21 and is caused by PEX6 mutations.
    Title: Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
Submit: New GeneRIF Correction

Phenotypes

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spinocerebellar ataxia, autosomal recessive 3

General gene information

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Markers

Other Names

  • spinocerebellar ataxia with blindness and deafness

Property

  • phenotype only

Gene LinkOut

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Molecular Biology Databases