BMP13 Human; Bone Morphogenetic protein-13 Human Recombinant; Growth Differentiation Factor 6; Growth/Differentiation Factor 16; Bone Morphogenetic Protein 13; BMP-13; BMP13; GDF-6; Klippel-Feil Malformation; Segmentation Syndrome 1; Klip-Feil Malformation; Klippel-Feil Syndrome; MCOPCB6; SCDO4; CDMP2; LCA17; MCOP4; GDF16; KFS1; KFSL; SGM1; KFM; KFS; GDF6

For Research Use Only. Not for use in diagnostic procedures.

E Coli

Greater than 95.0% as determined by: (a) Analysis by HPLC. (b) Analysis by SDS-PAGE.

BMP-13 protein was lyophilized from a 0.2 um filtered concentrated solution in 30% Acetonitrile and 0.1% TFA.
Sterile Filtered White lyophilized (freeze-dried) powder.

Lyophilized BMP13 although stable at room temperature for 3 weeks, should be stored desiccated below -18 degree C. Upon reconstitution BMP-13 should be stored at 4 degree C between 2-7 days and for future use below -18 degree C. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Please prevent freeze-thaw cycles.

Small volumes of BMP13 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Introduction: Growth/differentiation factors (GDF1-GDF15) belong to the BMP family of TGF-beta superfamily proteins. These factors are produced as inactive preproproteins which are subsequently cleaved and assembled into active secreted homodimers. BMP13 is a growth factor which controls proliferation and cellular differentiation in the retina and bone formation. BMP13 has a central role in regulating apoptosis during retinal development. GDF proteins are vital during embryonic development, particularly in the skeletal, nervous, and muscular systems. BMP13 gene mutations result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation.

Description: BMP13 Human Recombinant produced in E Coli is a non-glycosylated disulfide linked homodimer containing 2 chains of 120 amino acids and having a molecular mass of 27.1kDa.The BMP-13 is purified by proprietary chromatographic techniques.

CYTOKINES AND GROWTH FACTORS

50,662 Da

growth differentiation factor 6

growth/differentiation factor 6

Growth/differentiation factor 6

BMP13; GDF16; GDF-6; BMP-13??[Similar Products]

GDF6_HUMAN

GDF6: Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Defects in GDF6 are the cause of Klippel-Feil syndrome type 1 (KFS1). A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a well- known feature of KFS and may be of sensorineural, conductive, or mixed type. A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3). Defects in GDF6 are the cause of microphthalmia isolated type 4 (MCOP4). A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Belongs to the TGF-beta family.

Protein type: Cell development/differentiation; Cytokine; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 8q22.1

Cellular Component: extracellular space

Molecular Function: cytokine activity; transforming growth factor beta receptor binding

Biological Process: activin receptor signaling pathway; apoptosis; BMP signaling pathway; cell development; fat cell differentiation; positive regulation of chondrocyte differentiation; positive regulation of transcription, DNA-dependent; regulation of apoptosis; regulation of MAPKKK cascade

Disease: Klippel-feil Syndrome 1, Autosomal Dominant; Leber Congenital Amaurosis 17; Microphthalmia, Isolated 4; Microphthalmia, Isolated, With Coloboma 6

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