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Search results 1 to 3 out of 3 for Lca5

Category restricted to ProteinDomain (x)

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Categories

Category: ProteinDomain
Type Details Score
Protein Domain
Type: Domain
Description: This entry represents a domain found in lebercilin (LCA5) and lebercilin like proteins. 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 [, , ].
Protein Domain
Type: Family
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 [, , ].
Protein Domain
Type: Family
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 [, , ].This family consists of Lebercilin and Lebercilin-like proteins.