alsin; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; amyotrophic lateral sclerosis 2 protein (ALS2 ALS2CR6 KIAA1563)
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Function
- may act as a GTPase regulator. controls survival & growth of spinal motoneurons (putative)
- phosphorylated upon DNA damage, probably by ATM or ATR
- forms a heteromeric complex with ALS2CL
- interacts with ALS2CL
Structure
- contains 1 DH (DBL-homology) domain
- contains 8 MORN repeats
- contains 1 PH domain
- contains 5 RCC1 repeats
- contains 1 VPS9 domain
Alternative splicing
named isoforms=3
Pathology
- defects in ALS2 are the cause of
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q96Q42.html
- ↑ Alsod; Note: ALS genetic mutations db http://alsod.iop.kcl.ac.uk/als/
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ALS2
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=57679
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57679
- OMIM: https://mirror.omim.org/entry/205100
- OMIM: https://mirror.omim.org/entry/606352
- OMIM: https://mirror.omim.org/entry/606353
- OMIM: https://mirror.omim.org/entry/607225
- UniProt: http://www.uniprot.org/uniprot/Q96Q42.html