full name
ALS2, alsin Rho guanine nucleotide exchange factor

synonyms
ALS2CR6, ALSJ, IAHSP, PLSJ, ALS2, ENSG00000003393

HGNC
HGNC:443

Entrez Gene
Gene:57679

ENSEMBL
ENSG00000003393

location
chr: 2
start: 202564986
stop: 202645895
strand: -

OMIM
OMIM:606352: ALS2 (Autosomal recessive inheritance)
OMIM:205100: Amyotrophic lateral sclerosis 2, juvenile
OMIM:606353: Primary lateral sclerosis, juvenile
OMIM:607225: Spastic paralysis, infantile onset ascending

transcripts
NM_020919.3
NM_001135745.1

pathways
Amyotrophic lateral sclerosis (ALS) [NCBI:83099] [KEGG:hsa05014] [PUBMED:16026864] [PUBMED:16924260] [PUBMED:11513882] [PUBMED:17015226] [PUBMED:16723044] [PUBMED:10970056] [PUBMED:16909020] [PUBMED:12531867] [PUBMED:16713195] [PUBMED:16603792] [PUBMED:11870681] [PUBMED:16050975] [PUBMED:17409386] [PUBMED:11239414] [PUBMED:18519638] [PUBMED:14569202] [PUBMED:12728264] [PUBMED:11715057] [PUBMED:17566607] [PUBMED:17434459] [PUBMED:16909017] [PUBMED:12595144] [PUBMED:15310460] [PUBMED:14739060]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
RAB GEFs exchange GTP for GDP on RABs [NCBI:1457806] [REACTOME:R-HSA-8876198] [PUBMED:23898197] [PUBMED:16855591] [PUBMED:22694141] [PUBMED:19603039] [PUBMED:7957092] [PUBMED:23303910] [PUBMED:7991565] [PUBMED:25402849] [PUBMED:8631982] [PUBMED:21330364] [PUBMED:8349690] [PUBMED:18532927] [PUBMED:20512138] [PUBMED:8662963] [PUBMED:21250943] [PUBMED:20466531] [PUBMED:25341920] [PUBMED:22251903] [PUBMED:8164745] [PUBMED:1944536] [PUBMED:14574414] [PUBMED:27246931]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]