Recombinant Human Peptidyl-tRNA hydrolase 2, mitochondrial (PTRH2 BIT1 PTH2 CGI-147)

1. studies indicate Bit1 is an inhibitor of EMT and metastasis in lung cancer and hence can serve as a molecular target in curbing lung cancer aggressiveness PMID: 27655370
2. These collective findings indicate that loss of Bit1 expression contributes to the acquisition of malignant phenotype of human lung epithelial cells via Erk activation-induced suppression of E-cadherin expression. PMID: 29170133
3. This study reports on five infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. PMID: 27129381
4. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy in three sisters from a consanguineous family. PMID: 28328138
5. Bcl-2 expression patterns in various differentiated esophageal squamous cell carcinoma were higher than those in corresponding normal esophageal tissues with no statistical differences ( p > 0.05). Importantly, Bit1 expression was positively correlated with both matrix metalloproteinase 2 and Bcl-2 expression in esophageal squamous cell carcinoma and esophageal adenocarcinoma tissues ( p < 0.05). PMID: 28488526
6. Our data establishes a PTRH2 mutation as a novel driver of congenital muscle degeneration and identifies a potential novel target to treat muscle myopathies. PMID: 28175314
7. Bit1 may be an important regulator in cell growth, apoptosis, migration and invasion of esophageal squamous cell carcinoma via targeting FAK-paxillin pathway. PMID: 26956728
8. these findings suggest a tumor suppressive role of the caspase-independent anoikis effector Bit1 in lung cancer. PMID: 25003198
9. Reduction of the Bit1 level in cytosol, regulated by E2 binding to ESR1, was mainly mediated through PI3K/AKT pathways. PMID: 25211327
10. Bit1 plays pivotal roles in the development and progression of ESCC, and its biological functions in ESCC may be closely associated with AIF and Bcl-2 levels. PMID: 23955799
11. TLE1 inhibits the Bit1 anoikis pathway by reducing the formation of the proapoptotic Bit1-AES complex in part through sequestration of AES in the nucleus. PMID: 22952044
12. Bit1 may be a useful pathological marker and a prognostic marker for serous papillary adenocarcinomas outcome. PMID: 23259782
13. Data indicate that the cell death domain (CDD) to the N-terminal 62 amino acids of Bit1 was more potent in killing cells than the full-length Bit1 protein when equivalent amounts of cDNA were transfected. PMID: 23248118
14. downregulation of Bit1 conferred cancer cells with enhanced anoikis resistance, adhesive and migratory properties in vitro PMID: 21886829
15. Bit-1 mediates integrin-dependent cell survival through activation of the NFkappaB pathway PMID: 21383007
16. Results identify Bit1, a mitochondrial protein released into the cytoplasm during apoptosis that forms a complex with AES, a small Groucho/transducin-like enhancer of split (TLE) protein PMID: 15006356
17. Reduced expression of the proapoptotic proteins Bit1 or overexpression of Bcl-2 improved myoblast transplantation survival. PMID: 17511679
18. the PKD serine/threonine kinase is one of the signaling molecules through which integrin-mediated cell attachment controls Bit1 activity and anoikis PMID: 18703509
19. TAp63gamma could induce apoptosis in human esophageal squamous cancer EC9706 cells, through at least releasing AIF and Bit1 from mitochindria into cytosol and nucleus, where apoptotic cascade takes place. PMID: 19578750

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HGNC: 24265

OMIM: 608625

KEGG: hsa:51651

STRING: 9606.ENSP00000376758

UniGene: Hs.12677