SYNJ1 wt Allele

Preferred Label : SYNJ1 wt Allele;

NCIt synonyms : Inositol 5'-Phosphatase (Synaptojanin 1) Gene; INPP5G; Synaptojanin 1 wt Allele; KIAA0910; PARK20;

NCIt definition : Human SYNJ1 wild-type allele is located in the vicinity of 21q22.2 and is approximately 99 kb in length. This allele, which encodes synaptojanin-1 protein, is involved in the modulation of clathrin-coated vesicle endocytosis. Mutation of the gene is associated with early onset Parkinson disease 20.;

NCIt note : The SYNJ1 gene may be involved in the development of graft-vs.-host disease. (J Clin Invest. 2013;123:4739-4754.);

GenBank Accession Number : AF009040;

Details

Origin ID

C114738;

UMLS CUI

C3890714;

Automatic exact mappings (from CISMeF team)
- Parkinson disease 20, early-onset [OMIM Phenotype]
- synaptojanin 1 [ORDO Gene]
OMIM relation
- Synaptojanin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 21q22.2 [NCIt concept]
gene_is_element_in_pathway
- Ephrin B Forward Signaling Pathway [NCIt concept]
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Internalization Pathway for Epidermal Growth Factor Receptor [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Endocytotic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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