ALS2

The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Description

Alsin Rho guanine nucleotide exchange factor ALS2

Tissue specificity

Low tissue specificity

Subcell location

Intermediate filaments, Cytosol

Predicted location

Intracellular

Protein family

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

Chromosome

2 (201700267 - 201782112)

Ensembl ID

ENSG00000003393  (ver. 103.38)

Orthologs

Mouse Als2: ENSMUSG00000026024

UniProt

Q96Q42

neXtProt

NX_Q96Q42

Human splice variants
Mouse splice variants

Protein structure