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ATXN3 ataxin 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001127696 Homo sapiens ataxin 3 (ATXN3), transcript variant ad, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001127697 Homo sapiens ataxin 3 (ATXN3), transcript variant e, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001164774 Homo sapiens ataxin 3 (ATXN3), transcript variant b, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001164776 Homo sapiens ataxin 3 (ATXN3), transcript variant g, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001164777 Homo sapiens ataxin 3 (ATXN3), transcript variant j, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001164778 Homo sapiens ataxin 3 (ATXN3), transcript variant o, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001164779 Homo sapiens ataxin 3 (ATXN3), transcript variant r, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_001164780 Homo sapiens ataxin 3 (ATXN3), transcript variant u, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_001164781 Homo sapiens ataxin 3 (ATXN3), transcript variant y, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001164782 Homo sapiens ataxin 3 (ATXN3), transcript variant ae, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_004993 Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_030660 Homo sapiens ataxin 3 (ATXN3), transcript variant h, mRNA. GenEZ ORF Cloning On-demand $449.00 14

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Gene Symbol ATXN3
Entrez Gene ID 4287
Full Name ataxin 3
Synonyms AT3, ATX3, JOS, MJD, MJD1, SCA3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q21

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 one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009].
Disorder

MIM: 607047

Machado-Joseph disease, 109150 (3)

mRNA Protein Product Sequence Price Select
NM_001127696, 189163492 NP_001121168, 189163493 ataxin-3 isoform ad ORF Sequence $400.00
NM_001127697, 258613998 NP_001121169, 258613999 ataxin-3 isoform e ORF Sequence $300.00
NM_001164774, 258614018 NP_001158246, 258614019 ataxin-3 isoform b ORF Sequence $150.00
NM_001164776, 258614022 NP_001158248, 258614023 ataxin-3 isoform g ORF Sequence $150.00
NM_001164777, 258614026 NP_001158249, 258614027 ataxin-3 isoform j ORF Sequence $150.00
NM_001164778, 258614024 NP_001158250, 258614025 ataxin-3 isoform o ORF Sequence $150.00
NM_001164779, 258614028 NP_001158251, 258614029 ataxin-3 isoform r ORF Sequence $250.00
NM_001164780, 258614030 NP_001158252, 258614031 ataxin-3 isoform u ORF Sequence $250.00
NM_001164781, 258614032 NP_001158253, 258614033 ataxin-3 isoform y ORF Sequence $300.00
NM_001164782, 258614034 NP_001158254, 258614035 ataxin-3 isoform ae ORF Sequence $150.00
NM_004993, 189163490 NP_004984, 13518019 ataxin-3 reference isoform ORF Sequence $400.00
NM_030660, 189163491 NP_109376, 13518013 ataxin-3 isoform h ORF Sequence $300.00
KEGG
hsa04141Protein processing in endoplasmic reticulum
Homo sapiens (human)ATXN3NP_004984.2
Pan troglodytes (chimpanzee)ATXN3XP_001146724.2
Canis lupus familiaris (dog)ATXN3XP_537352.3
Bos taurus (cattle)ATXN3NP_001092686.1
Mus musculus (house mouse)Atxn3NP_083981.2
Rattus norvegicus (Norway rat)Atxn3NP_067734.1
Gallus gallus (chicken)ATXN3NP_989688.1
Danio rerio (zebrafish)atxn3NP_957398.1
Caenorhabditis elegansatx-3NP_506873.1
Arabidopsis thaliana (thale cress)AT3G54130NP_190981.1
GeneCards ATXN3
PDB 2KLZ, 2DOS, 2AGA, 1YZB, 2JRI
UniProt E9PB63, D6RDL9, P54252
MIM 607047
Ensembl ENSG00000066427
HGNC 7106
HPRD 06131

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

General protein information

Preferred Names
ataxin-3
Names
ataxin-3
josephin
ataxin 3 variant h
ataxin 3 variant m
ataxin 3 variant ref
olivopontocerebellar ataxia 3
Machado-Joseph disease protein 1
spinocerebellar ataxia type 3 protein
Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)
NP_001121168.1
NP_001121169.2
NP_001158246.1
NP_001158248.1
NP_001158249.1
NP_001158250.1
NP_001158251.1
NP_001158252.1
NP_001158253.1
NP_001158254.1
NP_004984.2
NP_109376.1

Interactant



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