2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingresponse to endoplasmic reticulum stresscentrosomespindleesophageal ulcersialolithiasishair colormalunion fracture
Based on limited published evidence, TTC23L encodes a tetratricopeptide repeat domain protein involved in protein binding and endoplasmic reticulum (ER) stress response. A genome-wide association study identified TTC23L as associated with 3-aminoisobutyrate urinary metabolite levels (rs36071744, P = 2.97 × 10⁻¹⁰) 1. Related studies suggest tetratricopeptide repeat proteins, including potential orthologs, may regulate ER stress chaperones and cellular stress responses 2. Further functional characterization is needed to establish TTC23L's specific molecular mechanisms.
1
TTC23L SNP rs36071744 associated with 3-aminoisobutyrate urinary metabolite levels in genome-wide association meta-analysis
PMID: 405952422
Tetratricopeptide repeat domain proteins regulate ER stress chaperones and cellular stress responses during cytokinesis
PMID: 25751302⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
esophageal ulcerOpen Targets
sialolithiasisOpen Targets
malunion fractureOpen Targets
ankylosing spondylitisOpen Targets
hyperpituitarismOpen Targets
open-angle glaucomaOpen Targets
Respiratory insufficiencyOpen Targets
kidney failureOpen Targets
hypothyroidismOpen Targets
irritable bowel syndromeOpen Targets
ovarian neoplasmOpen Targets
diabetes mellitusOpen Targets
deficiency anemiaOpen Targets
actinic keratosisOpen Targets
hepatocellular carcinomaOpen Targets
urinary bladder cancerOpen Targets
No pathogenic variants reported on ClinVar for this gene.