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LCA5 (NM_181714) - lebercilin LCA5

Lebercilin

Mutations Visualisation

Protein summary

This is preferred isoform of LCA5 protein. View all 2 isoforms
LCA5: lebercilin
Description:

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].

Strand
-
Chromosome
6
Protein
697 residues
All mutations
148
PTM sites
6
CDS
80,196,720 - 80,228,611
Transcription
80,194,707 - 80,247,147
64.85% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 167691
UniProt
Ensembl