C12orf53 Protein

10.10.2012

Produkt-Information von BPIFA2 / C12orf53 Protein

Synonym	C12orf53
Protein Construction	A DNA sequence encoding the human C12orf53 (Q8IYJ0-1)(Met1-Pro178) was expressed, fused with the Fc region of human IgG1 at the C-terminus.
Source	Human
Expression Host	Human Cells

QC Testing von BPIFA2 / C12orf53 Protein

Purity	> 96 % as determined by SDS-PAGE	SDS-PAGE: C12orf53 protein
Endotoxin	< 1.0 EU per μg of the protein as determined by the LAL method
Stability	Samples are stable for up to twelve months from date of receipt at -70℃
Predicted N terminal	Ser 32
Molecular Mass	The recombinant human C12orf53/Fc is a disulfide-linked homodimer. The reduced monomer comprises 388 amino acids and has a predicted molecular mass of 42.3 kDa. The apparent molecular mass of the protein is approximately 53 kDa in SDS-PAGE under reducing conditions.
Formulation	Lyophilized from a 0.2μm filtered solution of PBS,pH7.4. Normally 5 % - 8 % trehalose and mannitol are added as protectants before lyophilization. Specific concentrations are included in the hardcopy of COA.

Usage Guide von BPIFA2 / C12orf53 Protein

Storage	Store it under sterile conditions at -70℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
Reconstitution	A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.

Beschreibung von BPIFA2 / C12orf53 Protein

C12orf53 gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. C12orf53 is mainly expressed in adult brain and cerebellum. Its weaker expression is found in fetal brain and virtually no expression in spleen, heart, kidney, liver and dorsal ganglion relative to brain. C12orf53 specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle. Chromosome 12 encodes over 1,100 genes within 132 million bases. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2.

References

Strausberg RL. et al., 2002, Proc Natl Acad Sci. 99 (26):16899-903.
Ota T. et al., 2004, Nat Genet. 36 (1): 40-5.
Kogure A. et al., 2011, Biochem Biophys Res Commun. 405 (3): 428-33.

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