• Official Full Name
  • Hermansky-Pudlak syndrome 5
  • Background
  • This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.
  • Synonyms
  • HPS5; Hermansky-Pudlak syndrome 5; Hermansky-Pudlak syndrome 5 protein; ruby-eye protein 2 homolog; alpha integrin binding protein 63; alpha-integrin-binding protein 63; AIBP63; KIAA1017
Source (Host):Wheat GermSpecies:Human
Product nameRecombinant Human HPS5 Protein, GST-tagged
Source (Host):Mammalian CellsSpecies:Mouse
Product nameRecombinant Mouse HPS5 Protein
Source (Host):Mammalian CellsSpecies:Zebrafish
Product nameRecombinant Zebrafish HPS5
Source (Host):Species:Human
Product nameRecombinant Human HPS5 293 Cell Lysate

HPS5 Related Articles

Jedlitschky, G; Tirschmann, K; et al. The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage. BLOOD 104:3603-3610(2004).
Ward, DM; Shiflett, SL; et al. Use of expression constructs to dissect the functional domains of the CHS/Beige protein: Identification of multiple phenotypes. TRAFFIC 4:403-415(2003).
Moriyama, K; Bonifacino, JS; et al. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. TRAFFIC 3:666-677(2002).
Israels, SJ; Odaibo, FS; et al. Deficient thromboxane synthesis and response in platelets from premature infants. PEDIATRIC RESEARCH 41:218-223(1997).