Cell Biology Antibodies 9

Anti-BLOC1S6 Antibody (CAB4620)

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SKU:
CAB4620

Description

Product Name:BLOC1S6 Rabbit pAb
Product Code:CAB4620
Size:20uL, 50uL, 100uL
Synonyms:BLOC1S6, BLOS6, HPS9, PA, PALLID, PLDN
Applications:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-170 of human BLOC1S6 (NP_036520.1).
Applications:WB
Recommended Dilutions:WB 1:200 - 1:2000
Reactivity:Human, Mouse, Rat
Positive Samples:U-87MG, HepG2, DU145, K-562, Rat testis
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-170 of human BLOC1S6 (NP_036520.1).
Purification Method:Affinity purification
Storage:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:MSVP GPSS PDGA LTRP PYCL EAGE PTPG LSDT SPDE GLIE DLTI EDKA VEQL AEGL LSHY LPDL QRSK QALQ ELTQ NQVV LLDT LEQE ISKF KECH SMLD INAL FAEA KHYH AKLV NIRK EMLM LHEK TSKL KKRA LKLQ QKRQ KEEL EREQ QREK EFER EKQL TARP AK
Gene ID:26258
Uniprot:Q9UL45
Cellular Location:Cytoplasm, Endomembrane system, Peripheral membrane protein
Calculated MW:8kDa/19kDa
Observed MW:20kDa
UniProt Protein Function:PLDN: Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Defects in PLDN are the cause of Hermansky-Pudlak syndrome type 9 (HPS9). A form of Hermansky-Pudlak syndrome, a genetically heterogeneous 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. 3 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 15q21.1

Cellular Component: nucleoplasm; SNARE complex; transport vesicle; extrinsic to membrane; cytoplasm; cytosol; endosome

Molecular Function:actin filament binding; identical protein binding; protein binding; protein homodimerization activity; syntaxin binding

Biological Process: positive regulation of pigment cell differentiation; secretion of lysosomal enzymes; melanosome organization and biogenesis; anterograde synaptic vesicle transport; melanocyte differentiation; post-Golgi vesicle-mediated transport; anterograde axon cargo transport; blood coagulation; melanosome transport; positive regulation of natural killer cell activation; neurite development; synaptic vesicle docking during exocytosis

Disease: Hermansky-pudlak Syndrome 9

NCBI Summary:The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
UniProt Code:Q9UL45
NCBI GenInfo Identifier:41017511
NCBI Gene ID:26258
NCBI Accession:Q9UL45.1
UniProt Related Accession:Q9UL45
Molecular Weight:20 kDa
NCBI Full Name:Biogenesis of lysosome-related organelles complex 1 subunit 6
NCBI Synonym Full Names:biogenesis of lysosomal organelles complex 1 subunit 6
NCBI Official Symbol:BLOC1S6  
NCBI Official Synonym Symbols:PA; HPS9; PLDN; BLOS6; PALLID  
NCBI Protein Information:biogenesis of lysosome-related organelles complex 1 subunit 6
UniProt Protein Name:Biogenesis of lysosome-related organelles complex 1 subunit 6
UniProt Synonym Protein Names:Pallid protein homolog; Pallidin; Syntaxin 13-interacting protein
UniProt Gene Name:BLOC1S6  
UniProt Entry Name:BL1S6_HUMAN
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Additional Information

Product Type:
Antibody
Antibody Type:
Polyclonal Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Synonyms:
BLOC1S6
Synonyms:
BLOS6
Synonyms:
HPS9
Synonyms:
PA
Synonyms:
PALLID
Synonyms:
PLDN
Research Area:
Cell Biology
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