TMEM231 Antibody, HRP conjugated

产品详情

产品名称：

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

Q9H6L2
基因名：

TMEM231
别名：

TMEM231; UNQ870/PRO1886; Transmembrane protein 231
宿主：

Rabbit
反应种属：

Human
免疫原：

Recombinant Human Transmembrane protein 231 protein (161-261AA)
免疫原种属：

Homo sapiens (Human)
标记方式：

HRP
克隆类型：

Polyclonal
抗体亚型：

IgG
纯化方式：

>95%, Protein G purified
浓度：

It differs from different batches. Please contact us to confirm it.
保存缓冲液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
产品提供形式：

Liquid
应用范围：

ELISA
Protocols：

ELISA Protocol
储存条件：

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

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.
基因功能参考文献：
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
相关疾病：

Joubert syndrome 20 (JBTS20); Meckel syndrome 11 (MKS11)
亚细胞定位：

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

TMEM231 family
数据库链接：

HGNC: 37234

OMIM: 614949

KEGG: hsa:79583

UniGene: Hs.156784