CoCoA Products

Antibodies
CoCoA Antibody
CoCoA Antibody
NBP1-88215
Species: Hu
Applications: WB, ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
CoCoA Antibody
CoCoA Antibody
NBP1-88216
Species: Hu
Applications: WB, ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
CoCoA Antibody
CoCoA Antibody
H00057658-B01P
Species: Hu, Rt
Applications: WB, ELISA, ICC/IF
Host: Mouse Polyclonal
Lysates
CoCoA Overexpression Lysate ( ...
CoCoA Overexpression Lysate (Native)
NBL1-08645
Applications: WB
CoCoA Overexpression Lysate ( ...
CoCoA Overexpression Lysate (Denat...
H00057658-T01
Applications: WB
Proteins
CoCoA Recombinant Protein
CoCoA Recombinant Protein
H00057658-P01
Species: Hu
Applications: WB, ELISA, PA
CoCoA Recombinant Protein Ant ...
CoCoA Recombinant Protein Antigen
NBP1-88215PEP
Species: Hu
Applications: AC
CoCoA Recombinant Protein Ant ...
CoCoA Recombinant Protein Antigen
NBP1-88216PEP
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
Product By Gene ID 57658
Alternate Names
  • Calphoglin
  • Coiled-coil coactivator protein
  • inorganic pyrophosphatase activator
  • calphoglin
  • coiled-coil leucine zipper coactivator 1
  • Cocoa
  • KIAA1536calcium-binding and coiled-coil domain-containing protein 1
  • Sarcoma antigen NY-SAR-3
  • calcium binding and coiled-coil domain 1

Pathways for CoCoA

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

Cell Activation
Cellular Localization
Localization

PTMs for CoCoA

Learn more about PTMs related to CoCoA.

Phosphorylation

Bioinformatics Tool for CoCoA

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