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Protein Domain : Lebercilin

Primary Identifier  IPR026684 Type  Family
Short Name  Lebercilin
description  Lebercilin (LCA5) might be involved in minus end-directed microtubule transport []. Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. LCA represents the most common genetic cause of congenital visual impairment in infants and children [, , ].

0 Child Features

1 Parent Features

5 Protein Domain Regions