Gene: ALS2

Alternate names for this Gene: ALS2CR6|ALSJ|IAHSP|PLSJ

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.1

Description of this Gene: alsin Rho guanine nucleotide exchange factor ALS2

Type of Gene: protein-coding

rs386134175 in ALS2 gene and Hereditary spastic paralysis, infantile onset ascending PMID 12145748 2002 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

rs767350733 in ALS2 gene and Muscle hypotonia PMID 12145748 2002 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

PMID 12601111 2003 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

PMID 11586297 2001 The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 24562058 2014 ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

PMID 1606479 1992 Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs767350733 in ALS2 gene and Overgrowth PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 24562058 2014 ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

PMID 12145748 2002 Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

PMID 1606479 1992 Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria.

PMID 12601111 2003 Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

PMID 11586297 2001 The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.