1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
1PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
peptidyl-prolyl cis-trans isomerase activityprotein foldingregulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionsarcoplasmic reticulum membranemultiple sclerosisovarian dysfunctionDNA methylationhead and neck malignant neoplasia
Based on limited published evidence, FKBP1C is a peptidyl-prolyl cis-trans isomerase that catalyzes proline isomerization in oligopeptides and facilitates protein folding. UniProt annotations indicate involvement in regulating cardiac muscle contraction through sarcoplasmic reticulum calcium release. A whole-exome sequencing study of Nigerian benign prostatic hyperplasia samples identified FKBP1C somatic variants at significantly elevated frequency, suggesting potential involvement in apoptotic pathway dysfunction 1. However, functional validation of these associations remains limited.
1
FKBP1C showed significantly higher somatic alteration frequency in Nigerian benign prostatic hyperplasia samples, implicating it in apoptosis-related pathways affecting prostate development
PMID: 38192023β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
multiple sclerosisOpen Targets
ovarian dysfunctionOpen Targets
DNA methylationOpen Targets
head and neck malignant neoplasiaOpen Targets
ovarian neoplasmOpen Targets
brain aneurysmOpen Targets
osteitis deformansOpen Targets
hypertrophic cardiomyopathyOpen Targets
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
left ventricular noncompactionOpen Targets
dilated cardiomyopathyOpen Targets
Arrhythmogenic right ventricular dysplasiaOpen Targets
familial isolated dilated cardiomyopathyOpen Targets
Sensorineural deafness with dilated cardiomyopathyOpen Targets
hypertrophic cardiomyopathy 4Open Targets
hypertrophic cardiomyopathy 15Open Targets
dilated cardiomyopathy 1MOpen Targets
dilated cardiomyopathy 1FFOpen Targets
dilated cardiomyopathy 1GGOpen Targets
No pathogenic variants reported on ClinVar for this gene.