HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PFAS
phosphoribosylformylglycinamidine synthase
Chromosome 17 Β· 17p13.1
NCBI Gene: 5198Ensembl: ENSG00000178921.15HGNC: HGNC:8863UniProt: A8K8N7
106PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GMP biosynthetic process'de novo' IMP biosynthetic process'de novo' AMP biosynthetic process'de novo' XMP biosynthetic processdyskeratosis congenitaCoats plus syndromeneurodegenerative diseasegenetic disorder
✦AI Summary

PFAS (phosphoribosylformylglycinamidine synthase) is an ATP-dependent enzyme catalyzing a critical step in de novo purine biosynthesis. It converts formylglycinamide ribonucleotide (FGAR) and glutamine to formylglycinamidine ribonucleotide (FGAM), facilitating the synthesis of AMP, GMP, IMP, and XMP nucleotides in the cytoplasm and cytosol. This enzyme is essential for generating purine ribonucleoside monophosphates required for DNA and RNA synthesis. Note: The PubMed abstracts provided discuss per- and polyfluoroalkyl substances (environmental contaminants), which share the acronym PFAS but are entirely unrelated to the phosphoribosylformylglycinamidine synthase gene. No abstracts addressing the gene function, mechanism, disease relevance, or clinical significance of the PFAS enzyme were available for citation. The functional information above derives solely from the provided UniProt and Gene Ontology annotations, which are not peer-reviewed literature sources. To provide a comprehensive gene function summary with proper PubMed citations would require abstracts specifically investigating phosphoribosylformylglycinamidine synthase function, mutations, or disease associations.

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
dyskeratosis congenitaOpen Targets
0.52Moderate
Coats plus syndromeOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.19Weak
genetic disorderOpen Targets
0.17Weak
retinopathyOpen Targets
0.12Weak
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
Waardenburg syndrome type 2AOpen Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.06Suggestive
Griscelli disease type 1Open Targets
0.06Suggestive
Griscelli syndrome type 1Open Targets
0.06Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
Waardenburg syndrome, IIa 2FOpen Targets
0.05Suggestive
3q29 microduplicationOpen Targets
0.04Suggestive
chromosome 3q29 microduplication syndromeOpen Targets
0.04Suggestive
piebaldismOpen Targets
0.04Suggestive
Tietze syndromeOpen Targets
0.04Suggestive
Pathogenic Variants3
NM_012393.3(PFAS):c.2431C>T (p.Arg811Trp)Likely pathogenic
Phosphoribosylformylglycineamidine synthase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 811
NM_012393.3(PFAS):c.792C>G (p.Asn264Lys)Likely pathogenic
Phosphoribosylformylglycineamidine synthase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 264
NM_012393.3(PFAS):c.681-1G>APathogenic
Phosphoribosylformylglycineamidine synthase deficiency
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
REEP5Protein interaction92%PAICSProtein interaction83%PPATProtein interaction83%RBM8AProtein interaction79%ADSLProtein interaction76%GARTProtein interaction70%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
100%
Liver
80%
Lung
60%
Brain
59%
Heart
52%
Gene Interaction Network
Click a node to explore
PFASREEP5PAICSPPATRBM8AADSLGART
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O15067
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.55–0.78]
RankingsWhere PFAS stands among ~20K protein-coding genes
  • #4,495of 20,598
    Most Researched106 Β· top quartile
  • #3,985of 5,498
    Most Pathogenic Variants3
  • #6,340of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedPFAS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Per- and Polyfluoroalkyl Substance Toxicity and Human Health Review: Current State of Knowledge and Strategies for Informing Future Research.
PMID: 33017053
Environ Toxicol Chem Β· 2021
1.00
2
A review of the pathways of human exposure to poly- and perfluoroalkyl substances (PFASs) and present understanding of health effects.
PMID: 30470793
J Expo Sci Environ Epidemiol Β· 2019
0.90
3
Absorption, distribution, and toxicity of per- and polyfluoroalkyl substances (PFAS) in the brain: a review.
PMID: 34533150
Environ Sci Process Impacts Β· 2021
0.80
4
Human exposure to per- and polyfluoroalkyl substances (PFAS) through drinking water: A review of the recent scientific literature.
PMID: 31421451
Environ Res Β· 2019
0.70
5
Perfluoroalkyl and polyfluoroalkyl substances (PFAS) and their effects on the ovary.
PMID: 32476019
Hum Reprod Update Β· 2020
0.60