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- ATXN2 abstract "Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene.Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2). 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. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. SCA2 is caused by the expansion of a CAG repeat in the coding region of the ATXN2 gene producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 12, and it has been determined that the disease allele usually contains 34-52 CAG repeats, but can contain as few as 32 or more than 100. Normal alleles usually have 22 or 23 repeats, but can contain up to 31 repeats. A potential transcript variant, missing an internal coding exon, has been described; however, its full-length nature is not certain.In 2010, work from Aaron Gitler and Nancy Bonini at the University of Pennsylvania discovered that intermediate-size CAG repeat expansions are significantly associated with risk for developing amyotrophic lateral sclerosis (Lou Gehrig's disease).".
- ATXN2 entrezgene "6311".
- ATXN2 wikiPageExternalLink br.fcgi?book=gene&part=sca2.
- ATXN2 wikiPageID "14172398".
- ATXN2 wikiPageRevisionID "590715820".
- ATXN2 hasPhotoCollection ATXN2.
- ATXN2 requireManualInspection "no".
- ATXN2 summaryText "Mutations in ATXN2 cause spinocerebellar ataxia type 2 . The autosomal dominant cerebellar ataxias 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. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration , and ADCAIII often referred to as the `pure' cerebellar syndrome , are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. SCA2 is caused by the expansion of a CAG repeat in the coding region of the ATXN2 gene producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 12, and it has been determined that the disease allele usually contains 34-52 CAG repeats, but can contain as few as 32 or more than 100. Normal alleles usually have 22 or 23 repeats, but can contain up to 31 repeats. A potential transcript variant, missing an internal coding exon, has been described; however, its full-length nature is not certain.".
- ATXN2 updateCitations "yes".
- ATXN2 updatePage "yes".
- ATXN2 updateProteinBox "yes".
- ATXN2 updateSummary "no".
- ATXN2 type Biomolecule.
- ATXN2 type Protein.
- ATXN2 type BiologicalObject.
- ATXN2 comment "Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene.Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2). 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.".
- ATXN2 label "ATXN2".
- ATXN2 label "Ataxin-2".
- ATXN2 sameAs Ataxin-2.
- ATXN2 sameAs m.03cwsqy.
- ATXN2 sameAs Q369847.
- ATXN2 sameAs Q369847.
- ATXN2 sameAs ATXN2.
- ATXN2 wasDerivedFrom ATXN2?oldid=590715820.
- ATXN2 isPrimaryTopicOf ATXN2.