" /> NPHP1 wt Allele - CISMeF





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;

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29/07/2025


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