TMEM65 Antibody, Biotin conjugated

Code CSB-PA023869LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) TMEM65 Polyclonal antibody
Uniprot No.
Target Names
TMEM65
Alternative Names
TMEM65; Transmembrane protein 65
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Transmembrane protein 65 protein (63-240AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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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Target Background

Function
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.
Gene References into Functions
  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
Involvement in disease
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).
Subcellular Location
Cell membrane; Multi-pass membrane protein. Mitochondrion inner membrane; Multi-pass membrane protein.
Tissue Specificity
Predominantly expressed the ventricular tissue (at protein level).
Database Links

HGNC: 25203

OMIM: 616609

KEGG: hsa:157378

STRING: 9606.ENSP00000297632

UniGene: Hs.100691

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