TMEM65 Antibody, Biotin conjugated

說明書

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) TMEM65 Polyclonal antibody
Uniprot No.：

Q6PI78
基因名：

TMEM65
別名：

TMEM65; Transmembrane protein 65
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Transmembrane protein 65 protein (63-240AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

Antigen Affinity 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：

May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contribute to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication. May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance.
基因功能參考文獻：
1. A novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene identified in a patient with mitochondrial encephalomyopathy. TMEM65 mutation severely affected mitochondrial content and respiration rate in dermal fibroblasts. PMID: 28295037
相關疾病：

Defects in TMEM65 may cause a mitochondrial disorder characterized by a complex encephalomyopathic phenotype. Clinical features includ microcephaly, dysmorphic features, psychomotor regression, hypotonia, growth retardation, lactic acidosis, intractable seizures, dyskenetics movements, without cardiomyopathy (PubMed:28295037).
亞細胞定位：

Cell membrane; Multi-pass membrane protein. Mitochondrion inner membrane; Multi-pass membrane protein.
組織特異性：

Predominantly expressed the ventricular tissue (at protein level).
數據庫鏈接：

HGNC: 25203

OMIM: 616609

KEGG: hsa:157378

STRING: 9606.ENSP00000297632

UniGene: Hs.100691

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