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★四聚体多肽蛋白21B抗体费用 分子生物学：质粒抽提、PCR、Q-PCR、RT-PCR、分子生物学：基因合成、引物合成、基因测序、载体构建等

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实验流程：

四聚体多肽蛋白21B抗体费用 英文名称  Anti-TTC21B

中文名称  四聚体多肽蛋白21B抗体费用 

别    名 ATD4; JBTS11; Nbla10696; NPHP12; Putative protein product of Nbla10696; Tetratricopeptide repeat protein 21B; THM1; TPR repeat protein 21B; TT21B_HUMAN; Ttc21b.

产品属性：

浓    度  1mg/1ml

规 格  0.2ml/200μg

抗体来源  Rabbit

克隆类型   polyclonal

交叉反应   Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep

产品类型   一抗  

研究领域    细胞生物 发育生物学 神经生物学 信号转导 干细胞

蛋白分子量  predicted molecular weight: 150kDa 

性    状   Lyophilized or Liquid

免 疫 原  KLH conjugated synthetic peptide derived from human TTC21B

亚    型  IgG

纯化方法   affinity purified by Protein A

储 存 液   Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4

四聚体多肽蛋白21B抗体费用 产品应用   ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500

（石蜡切片需做抗原修复） 

 not yet tested in other applications.

 optimal dilutions/concentrations should be determined by the end user.  

保存条件  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. 

Important Note  This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

产品介绍 The tetratricopeptide repeat (TPR) motif is a degenerate, 34 amino acid sequence found in many proteins and acts to mediate protein-protein interactions in various pathways. At the sequence level, there can be up to 16 tandem TPR repeats, each of which has a helix-turn-helix shape that stacks on other TPR repeats to achieve ligand binding specificity. TTC21B (tetratricopeptide repeat domain 21B), also known as THM1, is a 1,316 amino acid protein that contains 19 TPR repeats and belongs to the TTC21 family. Localizing to cytoplasm and cytoskeleton, TTC21B exists as two alternatively spliced isoforms and is thought to negatively regulate Shh signal transduction. TTC21B may also be involved in retrograde intraflagellar transport in cilia, and is encoded by a gene that maps to human chromosome 2q24.3.

Function : May negatively modulate SHH signal transduction and may play a role in retrograde intraflagellar transport in cilia.

Subcellular Location : Cytoplasm

DISEASE : Note=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. TTC21B is causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. TTC21B mutations interact in trans with mutations in other ciliopathy-causing genes and contribute to disease manifestation and severity.

Defects in TTC21B are the cause of nephronophthisis type 12 (NPHP12) [MIM:613820]. NPHP12 is an autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects.

Defects in TTC21B are the cause of asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819]. ATD4 is an autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood.

Defects in TTC21B may be a cause of Bardet-Biedl syndrome (BBS) [MIM:209900]. A syndrome 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. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

Defects in TTC21B may be a cause of Joubert syndrome (JBTS) [MIM:213300]. A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

Similarity : Belongs to the TTC21 family.

Contains 19 TPR repeats.

Database links : UniProtKB/Swiss-Prot: Q7Z4L5.2

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