TTC8 blocking peptide
TTC8 Antibody (N-term) Blocking Peptide
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Uniprot Description
TTC8: 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 TTC8 are the cause of retinitis pigmentosa type 51 (RP51). It is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in TTC8 are the cause of Bardet-Biedl syndrome type 8 (BBS8). 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. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 14q31.3
Cellular Component: centrosome; cilium; cytosol
Molecular Function: protein binding
Biological Process: cilium biogenesis; establishment of anatomical structure orientation; sensory processing
Disease: Bardet-biedl Syndrome 8; Retinitis Pigmentosa 51
Research Articles on TTC8
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Product Notes
The TTC8 ttc8 (Catalog #AAA9222036) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "TTC8, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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