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

protein binding protein-containing complex binding

Cellular component

centrosome cytoskeleton cilium cilium axoneme axoneme photoreceptor connecting cilium photoreceptor connecting cilium

Pathways

Ciliary landscape Ciliopathies

via MyGene.info

Wikidata facts

Show 5 more facts

HomoloGene ID: 32718
exact match: identifiers.org/ncbigene/167691
genomic start: 80194708
genomic end: 80247175
cytogenetic location: 6q14.1

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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 ==