SETX

This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]

Description

Senataxin

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Cytokinetic bridge

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (132261356 - 132354986)

Ensembl ID

ENSG00000107290  (ver. 103.38)

Orthologs

Mouse Setx: ENSMUSG00000043535

UniProt

Q7Z333

neXtProt

NX_Q7Z333

Human splice variants
Mouse splice variants

Protein structure