human ATXN7 Adenovirus

ADCAII; ataxin-7; OPCA3; SCA7; spinocerebellar ataxia type 7 protein

Defects in ATXN7 are the cause of spinocerebellar ataxia type 7 (SCA7) also known as olivopontocerebellar atrophy III (OPCA III or OPCA3) or olivopontocerebellar atrophy with retinal degeneration. 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. Ataxin 7 acts as a component of the STAGA transcription coactivator-HAT complex. It mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation [taken from the Universal Protein Resource (UniProt) www.uniprot.org/uniprot/O15265].

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.

6314

ataxin 7

ataxin 7

ATXN7

HGNC:10560

9606.0

2679

2679 bp

Ataxin-7

NM_000333

NM_001177387, NM_001128149, NM_000333, BC166666,

Apoptosis,Cytoskeleton,Histone Modification,Neurobiology,Neurodegeneration,Transcription Factor/Regulator,Ubiquitination

cell_biology,neurobiology,transcription_translation

human

Defects in ATXN7 are the cause of spinocerebellar ataxia type 7 (SCA7) also known as olivopontocerebellar atrophy III (OPCA III or OPCA3) or olivopontocerebellar atrophy with retinal degeneration. 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. Ataxin 7 acts as a component of the STAGA transcription coactivator-HAT complex. It mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation [taken from the Universal Protein Resource (UniProt) www.uniprot.org/uniprot/O15265].

Hs.476595

O15265