Recombinant Full Length Human PTRH2 Protein, GST-tagged

• Cat.No.: PTRH2-1642HF
• Product Overview: Human Bit1 full-length ORF ( AAH06807, 1 a.a. - 179 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms.
• Source: In Vitro Cell Free System
• Species: Human
• Tag: GST
• Form: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
• Molecular Mass: 45.43 kDa
• Protein Length: 179 amino acids
• AA Sequence: MPSKSLVMEY LAHPSTLGLA VGVACGMCLG WSLRVCFGML PKSKTSKTHT DTESEASILG DSGEYKMILV VRNDLKMGKG KVAAQCSHAA VSAYKQIQRR NPEMLKQWEY CGQPKVVVKA PDEETLIALL AHAKMLGLTV SLIQDAGRTQ IAPGSQTVLG IGPGPADLID KVTGHLKLY
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: PTRH2 peptidyl-tRNA hydrolase 2 [ Homo sapiens ]
• Official Symbol: PTRH2
• Synonyms: PTRH2; peptidyl-tRNA hydrolase 2; peptidyl-tRNA hydrolase 2, mitochondrial; Bcl 2 inhibitor of transcription; BIT1; CGI 147; PTH2; PTH 2; bcl-2 inhibitor of transcription 1; CGI-147; FLJ32471
• Gene ID: 51651
• mRNA Refseq: NM_016077
• Protein Refseq: NP_057161
• MIM: 608625
• UniProt ID: Q9Y3E5