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Bardet-Biedl syndrome 7 protein

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Below are the list of possible Bardet-Biedl syndrome 7 protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Bardet-Biedl syndrome 7 protein

 Bardet-Biedl syndrome 7 protein ELISA Kit
 Bardet-Biedl syndrome 7 protein Recombinant
 Bardet-Biedl syndrome 7 protein Antibody
Also known as Bardet-Biedl syndrome 7 protein (BBS2-like protein 1).
BBS7: 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 membr
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ane. 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. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome. Defects in BBS7 are a cause of Bardet-Biedl syndrome type 7 (BBS7). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous 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. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 4q27

Cellular Component: axoneme; centrosome; cytosol; membrane

Molecular Function: protein binding

Biological Process: determination of left/right symmetry; digestive tract morphogenesis; fat cell differentiation; heart looping; intracellular transport; melanosome transport; pigment granule aggregation in cell center; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein localization; regulation of transcription from RNA polymerase II promoter

Disease: Bardet-biedl Syndrome 7
 BBS7 ELISA Kit
 BBS7 Recombinant
 BBS7 Antibody
 BBS2L1 ELISA Kit
 BBS2L1 Recombinant
 BBS2L1 Antibody
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Bardet-Biedl syndrome 7 protein homolog

 Bardet-Biedl syndrome 7 protein homolog ELISA Kit
 Bardet-Biedl syndrome 7 protein homolog Recombinant
 Bardet-Biedl syndrome 7 protein homolog Antibody
Also known as Bardet-Biedl syndrome 7 protein homolog (BBS2-like protein 1).
BBS7: 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 cilia
>>>
ry 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. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome. Defects in BBS7 are a cause of Bardet-Biedl syndrome type 7 (BBS7). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous 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. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). 2 isoforms of the human protein are produced by alternative splicing.

Cellular Component: axoneme; centrosome; membrane; nucleus; photoreceptor outer segment

Biological Process: brain development; eye development; fat cell differentiation; heart development; intracellular transport; limb development; palate development; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; protein localization; regulation of transcription from RNA polymerase II promoter; smoothened signaling pathway
 Bbs7 ELISA Kit
 Bbs7 Recombinant
 Bbs7 Antibody
 Bbs2l1 ELISA Kit
 Bbs2l1 Recombinant
 Bbs2l1 Antibody
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