NP_001138792.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
104,621 Da
NCBI Official Full Name
ADAMTS-like protein 2
NCBI Official Synonym Full Names
ADAMTS-like 2
NCBI Official Synonym Symbols
NCBI Protein Information
ADAMTS-like protein 2; ADAMTSL-2
UniProt Protein Name
ADAMTS-like protein 2
UniProt Synonym Gene Names
UniProt Entry Name
ATL2_HUMAN
NCBI Summary for ADAMTSL2
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 Comments for ADAMTSL2
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; Extracellular matrix; Protease; Secreted
Chromosomal Location of Human Ortholog: 9q34.2
Cellular Component: proteinaceous extracellular matrix
Molecular Function: protein binding; zinc ion binding; metalloendopeptidase activity
Biological Process: negative regulation of transforming growth factor beta receptor signaling pathway; proteolysis
Disease: Geleophysic Dysplasia 1
Research Articles on ADAMTSL2
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Products associated with ADAMTSL2 elisa kit
Pathways associated with ADAMTSL2 elisa kit
Diseases associated with ADAMTSL2 elisa kit
Organs/Tissues associated with ADAMTSL2 elisa kit
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