2 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.
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
N-acetylgalactosamine-6-phosphate deacetylase activityprotein bindingN-acetylglucosamine-6-phosphate deacetylase activitynucleusneurodegenerative diseasejoint diseasekidney failureobesity due to SIM1 deficiency
Based on limited published evidence, AMDHD2 is an amidohydrolase domain-containing protein that hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate in the Neu5Gc degradation pathway 1. AMDHD2 functions as an N-acetylglucosamine deacetylase that catalyzes a reverse reaction in the hexosamine biosynthetic pathway, balancing GFPT2 activity to limit UDP-GlcNAc production in cells expressing GFPT2 1. The protein localizes to the nucleus and cytosol. Additionally, AMDHD2 exhibits sex-specific DNA methylation patterns, with significantly higher methylation in females 2.
1
AMDHD2 is an N-acetylglucosamine deacetylase that catalyzes a reverse reaction in the hexosamine biosynthetic pathway and balances GFPT2 activity to limit UDP-GlcNAc production
PMID: 352297152
AMDHD2 shows robust sex-specific DNA methylation differences, with 30.6% higher methylation in female children compared to males
PMID: 37300819β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
joint diseaseOpen Targets
kidney failureOpen Targets
obesity due to SIM1 deficiencyOpen Targets
chronic obstructive pulmonary diseaseOpen Targets
lung adenocarcinomaOpen Targets
dental cariesOpen Targets
immune system diseaseOpen Targets
Hereditary breast cancerOpen Targets
ovarian serous cystadenocarcinomaOpen Targets
thyroid cancer, nonmedullary, 1Open Targets
Uterine CarcinosarcomaOpen Targets
uterine corpus endometrial carcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.