Bone Morphogenetic protein-13 Active Protein | BMP13 active protein

Recombinant Human Bone Morphogenetic protein-13

Cat. Num. AAA141065

• Gene Names: GDF6; KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; LCA17; MCOP4; SCDO4; BMP-13; MCOPCB6
• Purity: Greater than 95.0% as determined by: (a) Analysis by HPLC. (b) Analysis by SDS-PAGE.
• Synonyms: Bone Morphogenetic protein-13; Recombinant Human Bone Morphogenetic protein-13; 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; BMP13 active protein

• Host: E Coli
• Purity/Purification: Greater than 95.0% as determined by: (a) Analysis by HPLC. (b) Analysis by SDS-PAGE.
• Form/Format: 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.
• Sequence: TAFASRHGKR HGKKSRLRCS KKPLHVNFKE LGWDDWIIAP LEYEAYHCEG VCDFPLRSHL EPTNHAIIQT LMNSMDPGST PPSCCVPTKL TPISILYIDA GNNVVYKQYE DMVVESCGCR
• Sequence Length: 455

• Biological Activity: The ED50 as determined by inducing alkaline phosphatase production of murine ATDC5 cells is less than 2.0 ug/ml, corresponding to a specific activity of > 500IU/mg.
• Solubility: It is recommended to reconstitute the lyophilized BMP13 in sterile 18M-cm H2O not less than 100 ug/ml, which can then be further diluted to other aqueous solutions.
• Preparation and Storage: 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.

Related Product Information for BMP13 active protein

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.

Product Categories/Family for BMP13 active protein

Cytokines and Growth Factors

NCBI and Uniprot Product Information

• NCBI GI #: 48475062
• NCBI GeneID: 392255
• NCBI Accession #: NP_001001557.1
• NCBI GenBank Nucleotide #: NM_001001557.2
• UniProt Accession #: Q6KF10; Q6PI58
• Molecular Weight: 50,662 Da
• NCBI Official Full Name: growth/differentiation factor 6
• NCBI Official Synonym Full Names: growth differentiation factor 6
• NCBI Official Symbol: GDF6
• NCBI Official Synonym Symbols: KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; LCA17; MCOP4; SCDO4; BMP-13; MCOPCB6
• NCBI Protein Information: growth/differentiation factor 6
• UniProt Protein Name: Growth/differentiation factor 6
• UniProt Gene Name: GDF6
• UniProt Synonym Gene Names: BMP13; GDF16; GDF-6; BMP-13
• UniProt Entry Name: GDF6_HUMAN

Uniprot Description

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