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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
ADAMTS-like protein 4
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| http://www.biopax.org/relea... |
ATL4_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
ADAMTSL-4,
Thrombospondin repeat-containing protein 1
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| http://www.biopax.org/relea... |
FUNCTION: Positive regulation of apoptosis. SUBUNIT: Interacts with CTSB. SUBCELLULAR LOCATION: Secreted (Potential). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6UY14-1; Sequence=Displayed; Note=Gene prediction confirmed by EST data; Name=2; IsoId=Q6UY14-2; Sequence=VSP_052183, VSP_052184; Note=No experimental confirmation available; TISSUE SPECIFICITY: Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in fetal brain and skin. DISEASE: Defects in ADAMTSL4 are a cause of autosomal recessive isolated ectopia lentis (ARI-EL) [MIM:225100]. ARI-EL is a rare condition characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. SIMILARITY: Contains 1 PLAC domain. SIMILARITY: Contains 6 TSP type-1 domains. CAUTION: Although similar to members of the ADAMTS family, it lacks the metalloprotease and disintegrin-like domains which are typical of that family. SEQUENCE CAUTION: Sequence=AAG17217.1; Type=Frameshift; Positions=719; GENE SYNONYMS: TSRC1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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