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ATXN7 ataxin 7 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000333 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. ORF Sequence $776.91
Peptide Services
Antibody Services
Protein Services
NM_001128149 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7c, mRNA. ORF Sequence $650.76
Peptide Services
Antibody Services
Protein Services
NM_001177387 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7b, mRNA. ORF Sequence $823.02
Peptide Services
Antibody Services
Protein Services


Gene Symbol ATXN7
Entrez Gene ID 6314
Full Name ataxin 7
Synonyms ADCAII, FLJ17787, OPCA3, SCA7
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3p21.1-p12

Summary 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].
Disorder

MIM: 607640

Spinocerebellar ataxia-7, 164500 (3)

mRNA Protein Product Sequence Price Select
NM_000333, 189491740 NP_000324, 4506797 ataxin-7 isoform a Full Length $3258.90
ORF Sequence $776.91
NM_001128149, 293651610 NP_001121621, 293651611 ataxin-7 isoform c Full Length $2889.90
ORF Sequence $650.76
NM_001177387, 293651612 NP_001170858, 293651613 ataxin-7 isoform b Full Length $3089.70
ORF Sequence $823.02
Homo sapiens (human)ATXN7NP_001170858.1
Pan troglodytes (chimpanzee)ATXN7XP_001174619.2
Canis lupus familiaris (dog)ATXN7XP_848286.1
Bos taurus (cattle)ATXN7XP_002697032.1
Mus musculus (house mouse)Atxn7NP_631973.3
Rattus norvegicus (Norway rat)Atxn7XP_002728227.1
Gallus gallus (chicken)ATXN7XP_414415.2
Danio rerio (zebrafish)LOC100001490XP_001341475.4
GeneCards ATXN7
PDB 2KKR
UniProt Q9UPD8, O15265
MIM 607640
Ensembl ENSG00000163635
HGNC 10560
HPRD 06365

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
ataxin-7
Names
ataxin-7
spinocerebellar ataxia type 7 protein

Interactant

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