TMEM38B Antibody, FITC conjugated

說明書

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) TMEM38B Polyclonal antibody
Uniprot No.：

Q9NVV0
基因名：

TMEM38B
別名：

TMEM38B; C9orf87; Trimeric intracellular cation channel type B; TRIC-B; TRICB; Transmembrane protein 38B
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Trimeric intracellular cation channel type B protein (249-291AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
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
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：

Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores.
基因功能參考文獻：
1. TMEM38B mutations could lead to a rare form of OI, with an autosomal recessive pattern of inheritance. We identified two novel mutations (c.455-7T>G in intron 3 and c.507G>A in exon 4) in TMEM38B in three Chinese children with OI. The two mutations created a new acceptor splice site (p.R151_G152insVL) and a novel downstream termination codon (p.W169X), respectively PMID: 26911354
2. Absence of TMEM38B causes osteogenesis imperfecta by dysregulation of calcium flux kinetics in the endoplasmic reticulum, impacting multiple collagen-specific chaperones and modifying enzymes. PMID: 27441836
3. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. PMID: 23316006
4. TMEM38B is a novel candidate gene for autosomal recessive Osteogenesis imperfecta (OI). Future studies are needed to explore fully the contribution of this gene to autosomal recessive Osteogenesis imperfecta (OI) in other populations. PMID: 23054245
相關疾病：

Osteogenesis imperfecta 14 (OI14)
亞細胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein.
蛋白家族：

TMEM38 family
數據庫鏈接：

HGNC: 25535

OMIM: 611236

KEGG: hsa:55151

STRING: 9606.ENSP00000363824

UniGene: Hs.411925

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