RELN wt Allele

Preferred Label : RELN wt Allele;

NCIt synonyms : PRO1598; RL; LIS2; Reelin wt Allele;

NCIt definition : Human RELN wild-type allele is located in the vicinity of 7q22 and is approximately 518 kb in length. This allele, which encodes reelin protein, plays a role in extracellular matrix proteolysis, signal transduction and neuronal development. Mutation of the gene is associated with lissencephaly type 2.;

NCIt note : A polymorphic GGC triplet repeat located in the 5'-UTR region of the RELN gene, which numbers from 8 to 10 in the normal population, is increased in autistic patients to carry 4 to 23 additional repeats. (UniProt); Somatic mutation of the RELN gene may be associated with early T-cell precursor acute lymphoblastic leukemia. (Nature. 2012; 481:157-163.);

GenBank Accession Number : NM_005045;

Details

Origin ID

C102800;

UMLS CUI

C3539667;

False automatic mappings
- restless legs syndrome [MeSH Descriptor]
OMIM relation
- Reelin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q22 [NCIt concept]
gene_is_element_in_pathway
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- LIS1 Pathway [NCIt concept]
- Lissencephaly-1 Gene in Neuronal Migration and Development [NCIt concept]
- Reelin Signaling Pathway BioCarta [NCIt concept]
- Reelin Signaling Pathway PID [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Nervous System Development [NCIt concept]
- Neural Development [NCIt concept]
- Proteolysis [NCIt concept]
- Receptor Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients