LCA5

Also known as C6orf152, Leber congenital amaurosis 5, LCA5, lebercilin, lebercilin LCA5

Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene. This protein is thought to be involved in centrosomal or ciliary functions.

Gene data

LCA5

Name: lebercilin LCA5
Type: protein-coding
Position: 79,484,991–79,545,138 (−)
Aliases: C6orf152
Ensembl: ENSG00000135338
RefSeq RNA: NM_001122769.3, NM_181714.4, XM_005248665.5, XM_011535504.2, XM_047418251.1
RefSeq protein: NP_001116241.1, NP_859065.2, XP_005248722.1, XP_011533806.1, XP_047274207.1

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. [provided by RefSeq, Oct 2009].

Gene Ontology

Biological process

intraciliary transport photoreceptor cell maintenance

Molecular function

Article

2 sections

Contents

Clinical significance
References

Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene. This protein is thought to be involved in centrosomal or ciliary functions.

== Clinical significance ==