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ADAMTS-like protein

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ADAMTS-like protein 1

Also known as ADAMTS-like protein 1 (ADAMTSL-1) (Punctin-1).
ADAMTSL1: a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

Protein type: Extracellular matrix; Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide

ADAMTS-like protein 2

Also known as ADAMTS-like protein 2 (ADAMTSL-2).
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: 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

ADAMTS-like protein 3

Also known as ADAMTS-like protein 3 (ADAMTSL-3) (Punctin-2).
ADAMTSL3: 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Extracellular matrix; Motility/polarity/chemotaxis; Protease; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 15q25.2

Molecular Function: protein binding

ADAMTS-like protein 4

Also known as ADAMTS-like protein 4 (ADAMTSL-4).
Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis ().

ADAMTS-like protein 5

Also known as ADAMTS-like protein 5 (ADAMTSL-5) (Thrombospondin type-1 domain-containing protein 6).
ADAMTSL5: May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM). Interacts with heparin, FBN1 and FBN2. 2 isoforms of the human protein are produced by alternative splicing

Protein type: Extracellular matrix; Protease; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: extracellular region; microfibril; proteinaceous extracellular matrix

Molecular Function: heparin binding
Proteins Root Name Listing
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