TTLL5 Antibody, Biotin conjugated
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中文名稱：TTLL5兔多克隆抗體, Biotin偶聯
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貨號：CSB-PA715737LD01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) TTLL5 Polyclonal antibody
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Uniprot No.：
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基因名：
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別名：KIAA0998 antibody; SRC1 and TIF2-associated modulatory protein antibody; STAMP antibody; TTLL5 antibody; TTLL5_HUMAN antibody; Tubulin polyglutamylase TTLL5 antibody; Tubulin--tyrosine ligase-like protein 5 antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Tubulin polyglutamylase TTLL5 protein (1-269AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Biotin
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 -
產品提供形式：Liquid
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應用范圍：ELISA
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：Polyglutamylase which modifies tubulin, generating polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent initiation step of the polyglutamylation reaction over the elongation step. Preferentially modifies the alpha-tubulin tail over a beta-tail. Required for CCSAP localization to both polyglutamylated spindle and cilia microtubules. Increases the effects of transcriptional coactivator NCOA2/TIF2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction.
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基因功能參考文獻：
- in a study of 3 family members from 2 generations, identified in a previously misdiagnosed incomplete congenital stationary night blindness (icCSNB) case a splice-site mutation in intron 3 of TTLL5 (c.182-3_182-1delinsAA); reinvestigation of the clinical data corrected the diagnosis to cone dystrophy PMID: 28356705
- 5 homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe) and p.(Glu543Lys)] in TTLL5, in 8 patients from 6 families were identified. 2 male patients carrying truncating TTLL5 variants also displayed a reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. TTLL has multiple viable isoforms, being highly expressed in retina, testis and spermatozoon flagellum. PMID: 28173158
- this study has performed exome sequencing in 28 individuals with a similar disease phenotype and subsequently used a casecontrol approach to identify mutations in TTLL5 as a cause of recessive retinal dystrophy. PMID: 24791901
- This study indicates that a physiological function of STAMP in several settings is to modify cell growth rates in a manner that can be independent of steroid hormones. PMID: 20374646
- STAMP is an important new, downstream component of GR action in both gene activation and gene repression. PMID: 17116691
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相關疾病：Cone-rod dystrophy 19 (CORD19)
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亞細胞定位：Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm.
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蛋白家族：Tubulin--tyrosine ligase family
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組織特異性：Expressed in the retina, found in the rod and cone photoreceptors (at protein level). Widely expressed with highest levels in heart and skeletal muscle and low levels in other tissues.
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數據庫鏈接：
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