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Ataxin 3 OKDB#: 3298
 Symbols: ATXN3 Species: human
 Synonyms: AT3, JOS, MJD, ATX3, MJD1, SCA3,  Locus: 14q24.3-q32.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Transcript variants encoding different isoforms (not involving the (CAG)n repeats) and utilizing alternative polyA_sites have been described for this gene.
General function Enzyme, Hydrolase, Nucleic acid binding, DNA binding, Transcription factor
Comment
Cellular localization Cytoplasmic, Nuclear
Comment
Ovarian function Oogenesis, Oocyte maturation
Comment Gene whose expression is detected by cDNA array hybridization: transcription factors, cell signaling and extracellular communication. Also, relative transcript level reproducibly decreases during IVM Rozenn Dalbis-Tran and Pascal Mermilloda
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 22, 2006, 3:23 p.m. by: alex   email:
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last update: July 26, 2006, 1:33 p.m. by: Alex    email:



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