Hermansky Pudlak Syndrome Protein 4 (HPS4), Polyclonal Antibody

LE; Light-ear protein homolog

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

200ug/ml (lot specific)

Manufactured in an ISO 9001:2008 and ISO 13485:2003 Certified Laboratory.

Manufactured in a lab with traceable raw materials. Bulk orders can typically be prepared to the customer’s specifications, please inquire.

Small volumes of anti-HPS4 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Western Blot (WB), Immunohistochemistry (IHC)

78,648 Da

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

Hermansky-Pudlak syndrome 4 protein

Hermansky-Pudlak syndrome 4 protein

KIAA1667  [Similar Products]

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]

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: 22q12.1

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

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

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

Disease: Hermansky-pudlak Syndrome 4

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.