FAM20A encodes FAM20A golgi associated secretory pathway pseudokinase (541 aa). Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Highest expression in Cervix Endocervix (52.9 TPM) and Liver (44.6 TPM).

Amelogenesis imperfecta type 1G is associated with mutations in the FAM20A gene on chromosome 17.

FAM20A is classified as a druggable target (Druggable Genome, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Genetic testing for FAM20A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amelogenesis imperfecta type 1G has been reported in the published literature.

Phenotype severity distribution: 3 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered. Interventions under study include other interventions, procedural interventions, and biologic therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

18 publications have been identified in PubMed for amelogenesis imperfecta type 1G. Research spans Basic Science / Preclinical (28%), Review / Meta-Analysis (22%), and Case Report / Case Series (22%).

Recent Publications

• Ullah S (2026). [PMID: 40108106](https://pubmed.ncbi.nlm.nih.gov/40108106/). *Biochem Genet*. [Case Report / Case Series]

• Sriwattanapong K (2026). [PMID: 40693438](https://pubmed.ncbi.nlm.nih.gov/40693438/). *Cell Prolif*. [Basic Science / Preclinical]

• Koul R (2025). [PMID: 39872188](https://pubmed.ncbi.nlm.nih.gov/39872188/). *Med J Armed Forces India*. [Review / Meta-Analysis]

• Baker A (2025). [PMID: 41241263](https://pubmed.ncbi.nlm.nih.gov/41241263/). *Matrix Biol*. [Review / Meta-Analysis]

• Besa-Witto C (2025). [PMID: 39777984](https://pubmed.ncbi.nlm.nih.gov/39777984/). *Oral Dis*. [Epidemiology / Natural History]

• Tay JRH (2025). [PMID: 40719752](https://pubmed.ncbi.nlm.nih.gov/40719752/). *Clin Adv Periodontics*. [Case Report / Case Series]

• Hany U (2025). [PMID: 40741335](https://pubmed.ncbi.nlm.nih.gov/40741335/). *Hum Mutat*. [Diagnostic / Biomarker]

• Sharmin N (2025). [PMID: 40569950](https://pubmed.ncbi.nlm.nih.gov/40569950/). *PLoS One*. [Basic Science / Preclinical]

• Roomaney IA (2025). [PMID: 40089179](https://pubmed.ncbi.nlm.nih.gov/40089179/). *Eur J Med Genet*. [Review / Meta-Analysis]

• Erkapers M (2024). [PMID: 39376587](https://pubmed.ncbi.nlm.nih.gov/39376587/). *Ups J Med Sci*. [Case Report / Case Series]