Gene Symbol | ADAMTSL4 |
Entrez Gene ID | 54507 |
Full Name | ADAMTS like 4 |
Synonyms | ADAMTSL-4,ECTOL2,TSRC1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]. |
Disorder MIM: | |
Disorder Html: | Ectopia lentis, isolated, autosomal recessive, 225100 (3); Ectopia lentis et pupillae, 225200 (3) |