Cell Biology Antibodies 11

Anti-BBS2 Antibody (CAB7425)

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SKU:
CAB7425
Product Type:
Antibody
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-BBS2 Antibody
Antibody SKU:CAB7425
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-96 of human BBS2 (NP_114091.3).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Mouse, Rat
Positive Samples:Mouse testis, Mouse liver, Mouse kidney, Rat liver, Rat brain, Rat lung
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-96 of human BBS2 (NP_114091.3).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:MLLP VFTL KLRH KISP RMVA IGRY DGTH PCLA AATQ TGKV FIHN PHTR NQHV SASR VFQS PLES DVSL LNIN QAVS CLTA GVLN PELG YDAL LVGT
Gene ID:583
Uniprot:Q9BXC9
Cellular Location:Cell projection, Cytoplasm, centriolar satellite, centrosome, cilium membrane, cytoskeleton, microtubule organizing center
Calculated MW:79kDa
Observed MW:100kDa
Synonyms:BBS2, BBS, RP74
Background:This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.
UniProt Protein Function:BBS2: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2 (BBS2). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.
UniProt Protein Details:

Protein type:Cell development/differentiation

Chromosomal Location of Human Ortholog: 16q21

Cellular Component: cytosol

Molecular Function:protein binding

Biological Process: fat cell differentiation; negative regulation of multicellular organism growth; striatum development; organelle organization and biogenesis; hippocampus development; photoreceptor cell maintenance; positive regulation of multicellular organism growth; vasodilation; melanosome transport; protein localization; visual perception; protein localization in organelle; sensory cilium biogenesis; cartilage development; adult behavior; Golgi to plasma membrane protein transport; sperm axoneme assembly; brain morphogenesis; cerebral cortex development; artery smooth muscle contraction

Disease: Bardet-biedl Syndrome 2

NCBI Summary:This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
UniProt Code:Q9BXC9
NCBI GenInfo Identifier:20454827
NCBI Gene ID:583
NCBI Accession:Q9BXC9.1
UniProt Secondary Accession:Q9BXC9,Q96CM0, Q96SN9,
UniProt Related Accession:Q9BXC9
Molecular Weight:721
NCBI Full Name:Bardet-Biedl syndrome 2 protein
NCBI Synonym Full Names:Bardet-Biedl syndrome 2
NCBI Official Symbol:BBS2  
NCBI Official Synonym Symbols:BBS  
NCBI Protein Information:Bardet-Biedl syndrome 2 protein
UniProt Protein Name:Bardet-Biedl syndrome 2 protein
Protein Family:Bardet-Biedl syndrome 2 protein
UniProt Gene Name:BBS2  
UniProt Entry Name:BBS2_HUMAN
Anti-BBS2 Antibody (CAB7425)Western blot analysis of extracts of various cell lines, using BBS2 antibody (CAB7425) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhanced Kit (RM00021). Exposure time: 5s.
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