HPS4 Products

Antibodies
HPS4 Antibody
HPS4 Antibody
NBP2-31898
Species: Hu
Applications: ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
Lysates
HPS4 Overexpression Lysate (N ...
HPS4 Overexpression Lysate (Native)
NBL1-11698
Applications: WB
Proteins
HPS4 Recombinant Protein Anti ...
HPS4 Recombinant Protein Antigen
NBP2-31898PEP
Species: Hu
Applications: AC

Description

Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (1) encodes the longer isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

Bioinformatics

Entrez Human
Uniprot Human
Product By Gene ID 89781
Alternate Names
  • Light-ear protein homolog
  • Hermansky-Pudlak syndrome 4 protein
  • LE
  • KIAA1667bK1048E9.5
  • bK1048E9.4
  • Hermansky-Pudlak syndrome 4

Pathways for HPS4

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

Pigmentation
Transport
Translation
Insulin Secretion
Proteolysis
Gluconeogenesis
Interphase
Membrane Fusion
Vesicle Docking
Vesicle Fusion
Localization
Secretion

PTMs for HPS4

Learn more about PTMs related to HPS4.

Phosphorylation

Bioinformatics Tool for HPS4

Discover related pathways, diseases and genes to HPS4. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.
 
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