Description
Antibody Name: | ADAMTSL2 Antibody (PACO15315) |
Antibody SKU: | PACO15315 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB |
Recommended Dilutions: | ELISA:1:1000-1:2000, WB:1:200-1:1000 |
Species Reactivity: | Human, Mouse |
Immunogen: | Fusion protein of human ADAMTSL2 |
Form: | Liquid |
Storage Buffer: | -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Purification Method: | Antigen affinity purification |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Gel: 8%SDS-PAGE, Lysate: 40 μg, Lane 1-2: K562 cells, Jurkat cells, Primary antibody: PACO15315(ADAMTSL2 Antibody) at dilution 1/350, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 5 minutes. |
Background: | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor β binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. |
Synonyms: | ADAMTS-like 2 |
UniProt Protein Function: | ADAMTSL2: Defects in ADAMTSL2 are the cause of geleophysic dysplasia type 1 (GPHYSD1). An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.Protein type: Secreted, signal peptide; Protease; Secreted; Extracellular matrixChromosomal Location of Human Ortholog: 9q34.2Cellular Component: proteinaceous extracellular matrixMolecular Function: protein binding; zinc ion binding; metalloendopeptidase activityBiological Process: proteolysis; negative regulation of transforming growth factor beta receptor signaling pathwayDisease: Geleophysic Dysplasia 1 |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] |
UniProt Code: | Q86TH1 |
NCBI GenInfo Identifier: | 223718260 |
NCBI Gene ID: | 9719 |
NCBI Accession: | NP_001138792.1 |
UniProt Secondary Accession: | Q86TH1,O60345, B1B0D5 |
UniProt Related Accession: | Q86TH1 |
Molecular Weight: | 104,621 Da |
NCBI Full Name: | ADAMTS-like protein 2 |
NCBI Synonym Full Names: | ADAMTS-like 2 |
NCBI Official Symbol: | ADAMTSL2 |
NCBI Official Synonym Symbols: | GPHYSD1 |
NCBI Protein Information: | ADAMTS-like protein 2; ADAMTSL-2 |
UniProt Protein Name: | ADAMTS-like protein 2 |
UniProt Synonym Protein Names: | |
Protein Family: | ADAMTS-like protein |
UniProt Gene Name: | ADAMTSL2 |
UniProt Entry Name: | ATL2_HUMAN |