protein

Recombinant Hermansky Pudlak Syndrome Protein 4 (HPS4)

MBS2030973

0.01 mg

145 USD

Recombinant Protein

Recombinant Hermansky Pudlak Syndrome Protein 4 (HPS4)

[Hermansky Pudlak Syndrome Protein 4]

[Hermansky-Pudlak syndrome 4 protein isoform b; Hermansky-Pudlak syndrome 4 protein; Hermansky-Pudlak syndrome 4 protein; Hermansky-Pudlak syndrome 4; Light-ear protein homolog]

[HPS4]

[HPS4; HPS4; LE; KIAA1667]

HPS4_HUMAN

Host: E Coli. Source: Prokaryotic expression

Mouse

703

The target protein is fused with two N-terminal Tags, His-tag and T7-tag, its sequence is listed below. L YDGSKVKGEG DPTRAGICYF YPPQTLLDQQELLCGQLAGV VRCLWDLSGT PPMLIRMRNL KFAIRADGDY LWALGCGVEISDASCRQFLD QLIGFFHFYM GPVSLAYKSH PQEELSLQWD TSITQVLRSTSESHRIFNAL WNLDRTKVEP LLLLKAALIL QTCQRSPHVL AGCILYKGLIVNSQLLPSLT AKVL

>90%

Supplied as lyophilized form in 20mM Tris, 150mM NaCl, pH8.0, containing 1mM EDTA, 1mM DTT, 0.01% sarcosyl, 5% trehalose, and preservative.

Storage: Avoid repeated freeze/thaw cycles. Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months. Stability Test: The thermal stability is described by the loss rate of the target protein. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. (Referring from China Biological Products Standard, which was calculated by the Arrhenius equation.) The loss of this protein is less than 5% within the expiration date under appropriate storage condition.

SDS-PAGE, Western Blot (WB), ELISA (EIA), Immunoprecipitation (IP)

SDS-Page

Predicted isoelectric point: 7.7. Predicted Molecular Mass: 25.5kDa. Endotoxin: <1.0EU per 1ug (determined by the LAL method)

Expression System: Prokaryotic expression. Tag: two N-terminal Tags, His-tag and T7-tag. Organism Species: Mus musculus (Mouse). Fragment: Leu20~Leu214. Usage: Reconstitute in sterile ddH2O.

23110970

NP_690054.1

NM_152841.2

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: 22cen-q12.3. Cellular Component: platelet dense granule; membrane; lysosome; cytoplasm; melanosome. Molecular Function: protein dimerization activity; protein binding; protein homodimerization activity. Biological Process: protein stabilization; positive regulation of eye pigmentation; hemostasis; lysosome organization and biogenesis; melanocyte differentiation; blood coagulation; protein targeting. Disease: Hermansky-pudlak Syndrome 4

0.01 mg

145 USD

0.05 mg

270

0.1 mg

420

0.2 mg

515

0.5 mg

995

1 mg

1480