Domain

Lebercilin domain (IPR028933)

Short name: Lebercilin_dom

Domain relationships

None.

Description

This entry represents a domain found in lebercilin (LCA5) and lebercilin like proteins. 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.
Pfam