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Protein Page:
ADAMTSL2 (human)

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. Note: This description may include information from UniProtKB.
Protein type: Extracellular matrix; Protease; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 9q34.2
Molecular Function: protein binding
Biological Process: negative regulation of transforming growth factor beta receptor signaling pathway
Disease: Geleophysic Dysplasia 1
Reference #:  Q86TH1 (UniProtKB)
Alt. Names/Synonyms: ADAMTS-like 2; ADAMTS-like protein 2; ADAMTSL-2; ADAMTSL2; ATL2; FLJ45164; KIAA0605
Gene Symbols: ADAMTSL2
Molecular weight: 104,621 Da
Basal Isoelectric point: 6.02  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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