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Genetics Home Reference: your guide to understanding genetic conditions
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ATXN7

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ATXN7 gene?

The official name of this gene is “ataxin 7.”

ATXN7 is the gene's official symbol. The ATXN7 gene is also known by other names, listed below.

What is the normal function of the ATXN7 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6314):

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. ADCA is caused by the expansion of the CAG repeats, 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. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

From UniProt (http://www.uniprot.org/uniprot/O15265):

Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.

How are changes in the ATXN7 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/O15265) provides the following information about the ATXN7 gene's known or predicted involvement in human disease.

Spinocerebellar ataxia 7 (SCA7): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6314) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ATXN7 gene.
  • Spinocerebellar ataxia 7
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the ATXN7 gene and its association with health conditions.
OMIM
Number
Title

Where is the ATXN7 gene located?

Cytogenetic Location: 3p21.1-p12

Molecular Location on chromosome 3: base pairs 63,864,556 to 64,003,461

The ATXN7 gene is located on the short (p) arm of chromosome 3 between positions 21.1 and 12.

The ATXN7 gene is located on the short (p) arm of chromosome 3 between positions 21.1 and 12.

More precisely, the ATXN7 gene is located from base pair 63,864,556 to base pair 64,003,461 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ATXN7?

You and your healthcare professional may find the following resources about ATXN7 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ATXN7 gene or gene products?

  • ADCAII
  • OPCA3
  • SCA7

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ATXN7?

allele ; alternative splicing ; ataxia ; autosomal ; autosomal dominant ; brainstem ; cerebellum ; chromatin ; chromatin remodeling ; chromosome ; cytoskeleton ; gait ; gene ; locus ; microtubule ; protein ; splicing ; syndrome ; transcript ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: June 29, 2015