Rabbit anti-Human HPS4 Polyclonal Antibody | anti-HPS4 antibody

HPS4 Antibody

Cat. Num. AAA2518585

• Gene Names: HPS4; LE
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunofluorescence, Immunoprecipitation
• Purity: Antigen affinity purification
• Synonyms: HPS4; Polyclonal Antibody; HPS4 Antibody; KIAA1667; LE; bK1048E9.4; bK1048E9.5; anti-HPS4 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen affinity purification
• Sequence Length: 703

• Applicable Applications for anti-HPS4 antibody: ELISA (EIA), Western Blot (WB), Immunofluorescence (IF), Immunoprecipitation (IP)
• Application Notes: WB: 1:200-1:1000; IF: 1:20-1:50
• Immunogen: Fusion protein of HPS4
• Buffer: PBS with 0.1% sodium azide and 50% glycerol pH 7.3.
• Preparation and Storage: Store at -20 degree C. Avoid freeze / thaw cycles

Testing Data

NCBI and Uniprot Product Information

• NCBI GI #: 23110970
• NCBI GeneID: 89781
• NCBI Accession #: NP_690054.1
• NCBI GenBank Nucleotide #: NM_152841.2
• Molecular Weight: 78,648 Da
• NCBI Official Full Name: Hermansky-Pudlak syndrome 4 protein isoform b
• NCBI Official Synonym Full Names: Hermansky-Pudlak syndrome 4
• NCBI Official Symbol: HPS4
• NCBI Official Synonym Symbols: LE
• NCBI Protein Information: Hermansky-Pudlak syndrome 4 protein; light-ear protein homolog
• UniProt Protein Name: Hermansky-Pudlak syndrome 4 protein
• Protein Family: Hermansky-Pudlak syndrome 4 protein
• UniProt Gene Name: HPS4
• UniProt Synonym Gene Names: KIAA1667
• UniProt Entry Name: HPS4_HUMAN

NCBI Description

This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Uniprot Description

HPS4: May function in the pathway of organelle biogenesis. Defects in HPS4 are the cause of Hermansky-Pudlak syndrome type 4 (HPS4). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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. 4 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 22cen-q12.3

Cellular Component: membrane; platelet dense granule; lysosome; cytoplasm; melanosome

Molecular Function: protein dimerization activity; protein binding; protein homodimerization activity

Biological Process: positive regulation of eye pigmentation; protein stabilization; hemostasis; lysosome organization and biogenesis; melanocyte differentiation; blood coagulation; protein targeting

Disease: Hermansky-pudlak Syndrome 4