NPHP1 wt Allele

Preferred Label : NPHP1 wt Allele;

NCIt synonyms : Nephronophthisis 1 (Juvenile) wt Allele; JBTS4; FLJ97602; SLSN1; NPH1;

NCIt definition : Human NPHP1 wild-type allele is located in the vicinity of 2q13 and is approximately 83 kb in length. This allele, which encodes nephrocystin-1 protein, plays a role in the progression of adhesion-dependent signaling pathways. Mutations in the gene are associated with familial juvenile nephronophthisis type 1, Senior-Loken syndrome type 1, and Joubert syndrome type 4.;

GenBank Accession Number : AF023674;

Details

Origin ID

C75862;

UMLS CUI

C2698417;

OMIM relation
- Nephrocystin 1 [OMIM gene]
See also inter- (CISMeF)
- nephronophthisis 1 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Joubert Syndrome 4 [NCIt concept]
- Nephronophthisis 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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