" /> HPS1 wt Allele - CISMeF





Preferred Label : HPS1 wt Allele;

NCIt synonyms : Hermansky-Pudlak Syndrome Gene; BLOC3S1; Pale Ear, Mouse, Homolog of Gene; Hermansky-Pudlak Syndrome 1 Gene; HPS1 Biogenesis of Lysosomal Organelles Complex 3, Subunit 1 Gene; HPS1 Biogenesis of Lysosomal Organelles Complex 3 Subunit 1 wt Allele; HPS;

NCIt definition : Human HPS1 wild-type allele is located in the vicinity of 10q24.2 and is approximately 36 kb in length. This allele, which encodes BLOC-3 complex member HPS1 protein, plays a role in the assembly of lysosomes and melanosomes. Mutation of the gene is associated with Hermansky-Pudlak syndrome 1.;

NCI Metathesaurus CUI : CL1920660;

GenBank Accession Number : U79136;

Détails


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31/07/2025


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