A DNA sequence encoding the extracellular domain of human OSTM1 (NP_054747.2) (Met 1-Pro 284) was expressed, fused with a C-terminal polyhistidine tag.
Alternative Names
GIPN;GL;HSPC019;OPTB5
Reconstitution
Please refer to the printed manual for detailed information.
Background
Osteopetrosis-associated transmembrane protein 1 (OSTM1) is a Single-pass type I membrane protein. It is expressed in many hematopoietic cells of the myeloid and lymphoid B- and T-lineages. The analysis of OSTM1 association with CLCN7 demonstrated that OSTM1 requires CLCN7 to localize to lysosomes, whereas the formation of a CLCN7-OSTM1 complex is required to stabilize CLCN7. The researches found that OSTM1 plays a major role in myelopoiesis and lymphopoiesis and provided evidence of a crosstalk mechanism between hematopoietic cells for osteoclast activation. Thus, OSTM1 has a important role in osteoclast function and activation. The loss of function of OSTM1 results in deregulation of multiple hematopoietic lineages in addition to osteoclast lineage, OSTM1-defect patients display the most severe recessive osteopetrotic phenotype and die at early ages. Furthermore, it is suggested that OSTM1 has a primary role in neural development not related to lysosomal dysfunction. The canonical Wnt/beta-catenin signaling pathway may be a molecular basis for OSTM1 mutations and severe autosomal recessive osteopetrosis (ARO).
Reactivity
Human
Tag
C-His
Formulation
Lyophilized from sterile PBS, pH 7.4
Host
HEK293 Cells
Accession Number
NP_054747.2
Endotoxin Level
< 1.0 EU per ug as determined by the LAL method.
Mol Weight
29.7 kDa
Mw(kda)
29.7 kDa
Sequence Info
Met 1-Pro 284
Shipping
This product is provided as lyophilized powder which is shipped with ice packs.
Stotage Note
Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.