ALS2, alsin Rho guanine nucleotide exchange factor ALS2

ALS2, alsin Rho guanine nucleotide exchange factor 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]

• Gene Synonyms (ALS2CR6, ALSJ, IAHSP, PLSJ, alsin, ALS2, alsin Rho guanine nucleotide exchange factor, amyotrophic lateral sclerosis 2 (juvenile), amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein, amyotrophic lateral sclerosis 2 protein,)
• NCBI Gene ID: 57679
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A8K4R4
  UNIPROT ID#>>Q96Q42
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

alsin Rho guanine nucleotide exchange factor ALS2 interacts with:

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