TTC8, Polyclonal Antibody

Anti -TTC8, NT (TTC8, BBS8, Tetratricopeptide repeat protein 8, Bardet-Biedl syndrome 8 protein)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 14; NC_000014.8 (89290574..89344335). Location: 14q31.3

Polyclonal

IgG

Rabbit

Human

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-TTC8 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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. Alternate transcriptional splice variants have been characterized.

Antibodies; Abs to Tetratricopeptide Repeat Proteins

ELISA (EL/EIA), Western Blot (WB)

Suitable for use in Western Blot, ELISA
Dilution: ELISA: 1:1,000
Western Blot: 1:100-500

61,534 Da[Similar Products]

tetratricopeptide repeat domain 8

tetratricopeptide repeat protein 8; TPR repeat protein 8; Bardet-Biedl syndrome type 8; bardet-Biedl syndrome 8 protein

Tetratricopeptide repeat protein 8

BBS8; TPR repeat protein 8  [Similar Products]

TTC8_HUMAN

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. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

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; cytosol; photoreceptor connecting cilium; cilium

Molecular Function: protein binding

Biological Process: fat cell differentiation; axon guidance; protein transport; regulation of protein localization; sensory processing; sensory cilium biogenesis; multicellular organism growth; olfactory bulb development; establishment of anatomical structure orientation; organelle organization and biogenesis; sensory perception of smell; cilium biogenesis

Disease: Bardet-biedl Syndrome 8; Retinitis Pigmentosa 51

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