FLAD1

Chr 1q21.3

flavin adenine dinucleotide synthetase 1

Aliases:: PP591, FAD1
MANE:: ENST00000292180.8

OMIM: 610595 ↗NCBI: 80308 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FLAD1 · Q8NFF5

v62025-08-01

Predicted Aligned Error matrix for FLAD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.4/ 100

Confident

587 residues

Confidence breakdown

Very high(≥ 90)71%
Confident(70–90)10%
Low(50–70)2%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

myopathy with abnormal lipid metabolism
0.76
multiple acyl-CoA dehydrogenase deficiency
0.53
glutaric aciduria
0.52
neurodegenerative disease
0.50
multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
0.37
multiple acyl-CoA dehydrogenase deficiency, mild type
0.37
osteoarthritis
0.19
hereditary disease
0.19
hepatocellular carcinoma
0.10
neoplasm
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bifunctional FAD diphosphatase/FAD synthase

This enzyme has two activities: FAD diphosphatase activity and FAD synthase activity (PubMed:16643857, PubMed:21924249, PubMed:21951714, PubMed:23443125, PubMed:25135855, PubMed:26277395, PubMed:27259049, PubMed:31351152, PubMed:38688286). FAD diphosphatase acts on FAD and NADH to produce FMN and NMNH(2-), respectively (PubMed:26277395, PubMed:31351152, PubMed:38688286). FAD synthase catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme (PubMed:16643857, PubMed:21924249, PubMed:21951714, PubMed:23443125, PubMed:27259049, PubMed:38688286). In addition to its catalytic activities, the protein also facilitates the delivery of FAD to client apo-flavoproteins (PubMed:25954742). The balance between FAD synthesis and hydrolysis may be regulated by redox-sensing cysteine residues (PubMed:25135855, PubMed:26277395). At a much lower rate, FAD synthase catalyzes the reverse pyrophosphorolytic reaction (PubMed:21951714, PubMed:23443125, PubMed:25135855, PubMed:26277395). FAD synthase can also convert roseoflavin mononucleotide (RoFMN) to roseoflavin adenine dinucleotide (RoFAD); RoFMN is produced by riboflavin kinase when acting on the antibiotic roseoflavin (RoF) (PubMed:21924249). FAD synthase cannot convert 8-demethyl-8-amino-riboflavin mononucleotide (AFMN) to 8-demethyl-8-amino-riboflavin adenine dinucleotide (AFAD); AFMN is produced by riboflavin kinase when acting on the antibiotic 8-demethyl-8-amino-riboflavin (AF) (PubMed:21924249)