Family

Lebercilin (IPR026684)

Short name: Lebercilin

Family relationships

Description

Lebercilin (LCA5) might be involved in minus end-directed microtubule transport [PMID: 17546029]. 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 [PMID: 18000884, PMID: 17546029, PMID: 18334959].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER