Mouse anti-Human PKHD1 Monoclonal Antibody | anti-PKHD1 antibody

Anti-PKHD1 Mouse mAb

Cat. Num. AAA476819

• Gene Names: HPS1; HPS; BLOC3S1
• Reactivity: Human
• Applications: Western Blot, Immunocytochemistry, Immunohistochemistry, Flow Cytometry, Functional Assay
• Synonyms: PKHD1; Monoclonal Antibody; Anti-PKHD1 Mouse mAb; HPS; MGC5277; HPS1; anti-PKHD1 antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG1
• Clone Number: 5G12G2
• Form/Format: Ascitic fluid containing 0.03% sodium azide.
• Sequence Length: 4074

• Applicable Applications for anti-PKHD1 antibody: Western Blot (WB), Immunocytochemistry (ICC), Immunohistochemistry (IHC), Flow Cytometry (FC/FACS)
• Immunogen: Purified recombinant fragment of HPS1 expressed in E Coli.

Related Product Information for anti-PKHD1 antibody

Entrez Summary: Mutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive polycystic kidney disease (ARPKD). Unfortunately, the lack of specific antibodies to the mouse protein impairs the study of splicing, post-translational processing, shedding, and temporal and spatial expression of endogenous fibrocystin at the cellular and subcellular level.

NCBI and Uniprot Product Information

• NCBI GI #: 21239258
• NCBI GeneID: 3257
• Molecular Weight: 445
• NCBI Official Full Name: polycystic kidney and hepatic disease 1
• NCBI Official Synonym Full Names: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
• NCBI Official Symbol: HPS1
• NCBI Official Synonym Symbols: HPS; BLOC3S1
• NCBI Protein Information: Hermansky-Pudlak syndrome 1 protein
• UniProt Protein Name: Hermansky-Pudlak syndrome 1 protein
• Protein Family: Fibrocystin
• UniProt Gene Name: HPS1
• UniProt Synonym Gene Names: HPS

NCBI Description

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

Uniprot Description

HPS1: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting. Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). 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.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 10q24.2

Cellular Component: cytoplasm; cytoplasmic vesicle; integral to plasma membrane; lysosome

Molecular Function: guanyl-nucleotide exchange factor activity; protein binding; protein dimerization activity

Biological Process: lysosome organization and biogenesis

Disease: Hermansky-pudlak Syndrome 1