Recombinant Human Dact1 / Dapper homolog 1 Protein (RMPP-00230445)
Cat. No.: RMPP-00230445
Category: Recombinant Protein
Research Area: Stem Cells
INQUIRY
10 μg
Customer Size
Product Features
| Source | HEK 293 cells |
|---|---|
| Purity | ≥ 95% SDS-PAGE. ≥95% Purity by HPLC |
| Nature | Recombinant |
| Endotoxin Level | ≤ 0.005 Eu/µg |
| Carrier Free | Yes |
| Animal Free | Yes |
| Form | Lyophilized |
| Applications | Functional Studies; SDS-PAGE; HPLC; Cell Culture |
| Key Features | Expression system: HEK 293 cells; Purity: ≥ 95% SDS-PAGE; Endotoxin level: ≤ 0.005 Eu/µg; Active: Yes; Suitable for: Functional Studies, SDS-PAGE, MS, HPLC, Cell Culture |
Protein Information
| UniProt ID | Q13253 |
|---|---|
| Molecular Weight | 23 kDa |
| Molecular Weight Information | Mass determination by ESI-TOF. Predicted MW is 23104.64 Da. (+/- 10 Da by ESI-TOF). Observes MW is 23106.53 Da. Additional masses at 23382.04 is due to residual O-glycans. |
| Sequence | QHYLHIRPAP SDNLPLVDLI EHPDPIFDPK EKDLNETLLR SLLGGHYDPG FMATSPPEDR PGGGGGAAGG AEDLAELDQL LRQRPSGAMP SEIKGLEFSE GLAQGKKQRL SKKLRRKLQM WLWSQTFCPV LYAWNDLGSR FWPRYVKVGS CFSKRSCSVP EGMVCKPSKS VHLTVLRWRC QRRGGQRCGW IPIQYPIISE CKCSC |
| Sequence Similarities | Belongs to the noggin family. |
| Protein Length | Full length protein |
| Cellular Localization | Secreted. |
| Function | Essential for cartilage morphogenesis and joint formation. Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. |
| Involvement in Disease | Defects in NOG are a cause of symphalangism proximal syndrome (SYM1). SYM1 is characterized by the hereditary absence of the proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes towards the radial side. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conducive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone.Defects in NOG are the cause of multiple synostoses syndrome type 1 (SYNS1); also known as synostoses, multiple, with brachydactyly/symphalangism-brachydactyly syndrome. SYNS1 is characterized by tubular-shaped (hemicylindrical) nose with lack of alar flare, otosclerotic deafness, and multiple progressive joint fusions commencing in the hand. The joint fusions are progressive, commencing in the fifth proximal interphalangeal joint in early childhood (or at birth in some individuals) and progressing in an ulnar-to-radial and proximal-to-distal direction. With increasing age, ankylosis of other joints, including the cervical vertebrae, hips, and humeroradial joints, develop.Defects in NOG are the cause of tarsal-carpal coalition syndrome (TCC). TCC is an autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families.Defects in NOG are a cause of stapes ankylosis with broad thumb and toes (SABTS); also known as Teunissen-Cremers syndrome. SABTS is a congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism.Defects in NOG are the cause of brachydactyly type B2 (BDB2). BDB2 is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly. |
Storage & Shipping
| Shipping and Storage | Shipped at Room Temperature. Store at Room Temperature. pH: 7.40Constituents: 0.727% Dibasic monohydrogen potassium phosphate, 0.248% Monobasic dihydrogen potassium phosphate, 10% Trehalose This product is an active protein and may elicit a biological response in vivo, handle with caution. |
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For research use only. Not for clinical use.
