Lca5 - Leber congenital amaurosis 5 (human) Gene

Also Known as ORF64; 4930431B11Rik; 5730406O13Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 75782

Summary

Acts upstream of or within intraciliary transport and photoreceptor cell maintenance. Located in axoneme; ciliary basal body; and photoreceptor connecting cilium. Is expressed in several structures, including nervous system; reproductive system; sensory organ; surface ectoderm; and thymus. Used to study Leber congenital amaurosis 5. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 5. Orthologous to human LCA5 (lebercilin LCA5). [provided by Alliance of Genome Resources, Apr 2022]

Lca5 Products (2)

mRNA Protein Name
NM_027448.2 NP_081724.1 lebercilin isoform b
NM_029434.3 NP_083710.2 lebercilin isoform a

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
acts upstream of or within intraciliary transport IMP
IMP: Inferred from mutant phenotype
21606596 MGI
acts upstream of or within photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
21606596 MGI
Cellular Component GO Annotation Evidence References Source
located in axoneme IDA
IDA: Inferred from direct assay
24833722 MGI
located in ciliary basal body IDA
IDA: Inferred from direct assay
24833722 MGI
located in cilium IDA
IDA: Inferred from direct assay
21606596 MGI
located in neuron projection IDA
IDA: Inferred from direct assay
21606596 MGI
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
21606596 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

lebercilin

  • leber congenital amaurosis 5 protein homolog

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07548 LCA5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-177795 5β-Cholanic acid-3,6-dione / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Lca5 NCBI NCBI:167691