ALS2

Name

alsin Rho guanine nucleotide exchange factor ALS2

Type

protein-coding

Position

201,700,267–201,782,112 (−)

Aliases

ALS2CR6, ALSJ, IAHSP, PLSJ

Ensembl

ENSG00000003393

RefSeq RNA

NM_001135745.2, NM_001410975.1, NM_020919.4, XM_006712654.4, XM_006712655.4

RefSeq protein

NP_001129217.1, NP_001397904.1, NP_065970.2, XP_006712717.1, XP_006712718.1

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].

via MyGene.info

Gene · Ensembl

alsin Rho guanine nucleotide exchange factor ALS2

Symbol

ALS2

Biotype

Protein coding

Organism

Homo sapiens

Location

2:201,700,267-201,782,112

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

via Wikidata · CC0