Gene: LCA5

Alternate names for this Gene: C6orf152

Gene Summary: This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described.

Gene is located in Chromosome: 6

Location in Chromosome : 6q14.1

Description of this Gene: lebercilin LCA5

Type of Gene: protein-coding

Gene: LOC100506851

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs766143193 in LCA5;LOC100506851 gene and Leber Congenital Amaurosis PMID 23946133 2013 Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.