TMEM127 Antibody, Biotin conjugated

Code CSB-PA023694LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) TMEM127 Polyclonal antibody
Uniprot No.
Target Names
TMEM127
Alternative Names
TMEM127; Transmembrane protein 127
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Transmembrane protein 127 protein (1-95AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G 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
Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.
Gene References into Functions
  1. Of which 4 SDHB and 2 TMEM127 mutations were novel. PMID: 26960314
  2. Hereditary pheochromocytoma / paraganglioma associated with TMEM127 gene mutations has more aggressive course,bilateral adrenal involvement, higher recurrence rate, younger age at disease manifestations. PMID: 26591561
  3. We report the first case of an individual with both a pheochromocytoma and a multilocular clear cell renal cell carcinoma driven by a novel germline mutation in the TMEM127 gene, with a sibling and 2 sons with the same mutation. PMID: 25800244
  4. Tumor multicentricity, nodular adrenomedullary hyperplasia, and the occurrence of symptoms more than a decade earlier than the age at diagnosis are novel findings in TMEM127-related pheochromocytoma. PMID: 25389632
  5. A male patient with sporadic adrenal pheochromocytoma presents with a novel TMEM127 germline mutation, p. Gln139X. PMID: 23551308
  6. TMEM127 protein localizes in lysosomes in HeLa cells PMID: 21752829
  7. report shows that TMEM127 mutation plays a pathological role in pheochromocytoma in an Asian population. PMID: 22541004
  8. TMEM127 is a novel pheochromocytoma susceptibility gene.[review] PMID: 21447639
  9. TMEM127 germline mutations confer risks of extraadrenal paraganglial tumors in addition to the documented adrenal pheochromocytoma. PMID: 21613359
  10. Pathological and genomic data demonstrated that a TMEM127 gene mutation not previously described was causative of a new case of familial bilateral pheochromocytoma. PMID: 20923864
  11. Germline mutations of FP/TMEM127 were associated with pheochromocytoma but not paraganglioma and occurred in an age group frequently excluded from genetic screening algorithms; mutations disrupt intracellular distribution of the FP/TMEM127 protein. PMID: 21156949
  12. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma and identify TMEM127 as a tumor suppressor gene. PMID: 20154675

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Involvement in disease
Pheochromocytoma (PCC)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Cytoplasm.
Protein Families
TMEM127 family
Tissue Specificity
Widely expressed.
Database Links

HGNC: 26038

OMIM: 171300

KEGG: hsa:55654

STRING: 9606.ENSP00000258439

UniGene: Hs.164303

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