HPS3 Products

Antibodies
HPS3 Antibody
HPS3 Antibody
NBP1-92007
Species: Hu
Applications: WB, ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
HPS3 Antibody
HPS3 Antibody
NBP1-31061
Species: Hu, Bovine, Porcine
Applications: WB, ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
HPS3 Antibody
HPS3 Antibody
NB100-1445
Species: Hu
Applications: WB, PEP-ELISA
Host: Goat Polyclonal
Lysates
HPS3 Overexpression Lysate (D ...
HPS3 Overexpression Lysate (Denatu...
H00084343-T01
Species: Hu
Applications: WB
HPS3 Overexpression Lysate (N ...
HPS3 Overexpression Lysate (Native)
NBL1-11697
Applications: WB
Proteins
HPS3 Partial Recombinant Prot ...
HPS3 Partial Recombinant Protein
H00084343-Q01
Species: Hu
Applications: WB, ELISA, PA
HPS3 Recombinant Protein
HPS3 Recombinant Protein
H00084343-P01
Species: Hu
Applications: WB, ELISA, PA
HPS3 Recombinant Protein Anti ...
HPS3 Recombinant Protein Antigen
NBP1-92007PEP
Species: Hu
Applications: AC

Description

HPS3 is involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of the cocoa (coa) mutant, and of Hermansky-Pudlak syndrome type 3 (HPS3). HPS3 is an autosomal recessive disorder, characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

Bioinformatics

Entrez Human
Uniprot Human
Human
Human
Human
Product By Gene ID 84343
Alternate Names
  • Hermansky-Pudlak syndrome 3 protein
  • FLJ22704
  • DKFZp686F0413
  • SUTAL
  • Hermansky-Pudlak syndrome 3

Pathways for HPS3

View related products by pathway and learn more about each of the pathways below.

Pigmentation
Localization
Secretion
Pathogenesis
Insulin Secretion
Gluconeogenesis
Platelet Aggregation

PTMs for HPS3

Learn more about PTMs related to HPS3.

Phosphorylation

Bioinformatics Tool for HPS3

Discover related pathways, diseases and genes to HPS3. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.
 
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