TMEM231 Antibody, HRP conjugated

說明書

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) TMEM231 Polyclonal antibody
Uniprot No.：

Q9H6L2
基因名：

TMEM231
別名：

TMEM231; UNQ870/PRO1886; Transmembrane protein 231
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Transmembrane protein 231 protein (161-261AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

HRP
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
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
應用范圍：

ELISA
Protocols：

ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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.
用途：

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

功能：

Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.
基因功能參考文獻：
1. Results identified a rare gene conversion event in TMEM231, leading to loss of exon 4, which in combination with c.712G>A missense mutation caused Joubert syndrome and in combination with c.334T>G missense mutation caused Meckel-Gruber syndrome. PMID: 27449316
2. Tmem231 is critical for organizing the Meckel syndrome complex and controlling ciliary composition, defects in which cause OFD3 and MKS. PMID: 25869670
3. TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies. PMID: 23349226
4. mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone. PMID: 23012439
相關疾病：

Joubert syndrome 20 (JBTS20); Meckel syndrome 11 (MKS11)
亞細胞定位：

Cell projection, cilium membrane; Multi-pass membrane protein.
蛋白家族：

TMEM231 family
數據庫鏈接：

HGNC: 37234

OMIM: 614949

KEGG: hsa:79583

UniGene: Hs.156784

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