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ATN1 atrophin 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001007026 Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_001940 Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

Gene Symbol ATN1
Entrez Gene ID 1822
Full Name atrophin 1
Synonyms B37, D12S755E, DRPLA, HRS, NOD
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12p13.31

Summary Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010].
Disorder

MIM: 607462

Dentatorubro-pallidoluysian atrophy, 125370 (3)

mRNA Protein Product Sequence Price Select
NM_001007026, 55750052 NP_001007027, 55750053 atrophin-1 ORF Sequence $1500.00
NM_001940, 55750040 NP_001931, 55750041 atrophin-1 ORF Sequence $1500.00
Homo sapiens (human)ATN1NP_001007027.1
Pan troglodytes (chimpanzee)ATN1NP_001029337.1
Canis lupus familiaris (dog)ATN1XP_003640006.1
Bos taurus (cattle)ATN1NP_001192677.1
Mus musculus (house mouse)Atn1NP_031907.2
Rattus norvegicus (Norway rat)Atn1NP_058924.2
Gallus gallus (chicken)ATN1XP_425518.3
GeneCards ATN1
UniProt P54259, Q86V38
MIM 607462
Ensembl ENSG00000111676
HGNC 3033
HPRD 06311

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

General protein information

Preferred Names
atrophin-1
Names
atrophin-1
dentatorubral-pallidoluysian atrophy protein

Interactant



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