LongevityMap Gene

Gene details

HGNC symbol
ATXN1 
Aliases
ATX1; SCA1; D6S504E 
Common name
ataxin 1 
Description
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. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2016]
Cytogenetic Location
6p22.3
UCSC Genome Browser
View 6p22.3 on the UCSC genome browser
OMIM
601556
Ensembl
ENSG00000124788
UniProt/Swiss-Prot
ATX1_HUMAN
Entrez Gene
6310
UniGene
434961
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
atxn1a
Mus musculus
Atxn1
Rattus norvegicus
Atxn1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Italian
Study Design
Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
Conclusions
A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
Indentifier
rs697739
Reference