2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingintraciliary transportaxonemeneurodegenerative diseasedehydrated hereditary stomatocytosisRh deficiency syndromeHemolytic anemia due to red cell pyruvate kinase deficiency
Based on limited published evidence, LCA5L (lebercilin LCA5 like) is a protein involved in ciliary biology with annotations indicating roles in protein binding, axoneme structure, and intraciliary transport. A genome-wide association study identified LCA5L as part of a risk locus (rs2837022) associated with non-suicidal self-injury, with colocalization evidence suggesting nearby SH3BGR/GET1 expression in the hippocampus contributes to this phenotype 1. LCA5L was also identified as a down-regulated protein in liver tissues of non-alcoholic steatohepatitis patients 2. However, direct functional characterization of LCA5L remains limited.
1
LCA5L locus (rs2837022) associated with non-suicidal self-injury risk through hippocampal gene expression effects
PMID: 403479412
LCA5L identified as significantly down-regulated protein in NASH liver tissue proteomic analysis
PMID: 34658353⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
dehydrated hereditary stomatocytosisOpen Targets
Rh deficiency syndromeOpen Targets
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
gluthathione peroxidase deficiencyOpen Targets
hemoglobin D diseaseOpen Targets
Hemoglobin E - beta-thalassemiaOpen Targets
hemoglobin E-beta-thalassemia syndromeOpen Targets
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
thrombophiliaOpen Targets
primary familial polycythemia due to EPO receptor mutationOpen Targets
elliptocytosis 2Open Targets
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
megaloblastic anemia, folate-responsiveOpen Targets
ThrombocytopeniaOpen Targets
No pathogenic variants reported on ClinVar for this gene.