PFN1 wt Allele

Preferred Label : PFN1 wt Allele;

NCIt synonyms : ALS18; Profilin 1 wt Allele;

NCIt definition : Human PFN1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 3 kb in length. This allele, which encodes profilin-1 protein, is involved in cytoskeleton regulation. Deletion of the gene may be associated with Miller-Dieker syndrome and mutation of the gene is associated with amyotrophic lateral sclerosis 18.;

NCIt note : The protein encoded by the PFN1 gene interacts with huntingtin protein and may play a role in Huntington disease.;

GenBank Accession Number : BC057828;

Details

Origin ID

C125445;

UMLS CUI

C4085182;

Automatic exact mappings (from CISMeF team)
- Amyotrophic lateral sclerosis 18 [OMIM Phenotype]
- amyotrophic lateral sclerosis type 18 [DO Concept]
OMIM relation
- Profilin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.3 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Extracellular Matrix Binding Pathway [NCIt concept]
- Rho Cell Motility Signaling Pathway [NCIt concept]
- Salmonella Pathway [NCIt concept]
- Shigellosis Pathway [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Ligand Binding [NCIt concept]
- Signal Transduction Inhibition [NCIt concept]

Keyword's position in hierarchy(ies) :

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