2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
11PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
mitochondrionprotein-lysine N-methyltransferase activitypeptidyl-lysine trimethylationprotein bindingatrial fibrillationheart failurebone fractureankylosing spondylitis
Based on limited published evidence, ANTKMT is a mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases (ANT2/SLC25A5 and ANT3/SLC25A6) at lysine-52, with probable activity toward ANT1/SLC25A4 1. This trimethylation regulates mitochondrial respiration and ATP synthesis. ANTKMT-deficient cells exhibit increased mitochondrial respiration compared to proficient cells, indicating functional significance of ANT methylation 1. The enzyme localizes to mitochondria via a noncanonical targeting sequence. ANTKMT has been identified as a candidate hub gene in hair follicle development pathways 2.
1
ANTKMT (FAM173A) trimethylates ANT2 and ANT3 at Lys-52, regulates mitochondrial respiration, and its deficiency increases mitochondrial respiration
PMID: 312135262
ANTKMT identified as a candidate hub gene in hair follicle cycle development
PMID: 33513983β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
atrial fibrillationOpen Targets
heart failureOpen Targets
bone fractureOpen Targets
ankylosing spondylitisOpen Targets
46,XX ovotesticular disorder of sex developmentOpen Targets
Testicular regression syndromeOpen Targets
ovarian carcinomaOpen Targets
nasopharyngeal carcinomaOpen Targets
Alzheimer diseaseOpen Targets
adrenocortical carcinoma, hereditaryOpen Targets
esophageal cancerOpen Targets
ovarian serous cystadenocarcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
No pathogenic variants reported on ClinVar for this gene.