FLAD1 Gene (Protein Coding)

Flavin Adenine Dinucleotide Synthetase 1

GC01P154983
GIFtS:
42
This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] See more...

Aliases for FLAD1 Gene

Aliases for FLAD1 Gene

  • Flavin Adenine Dinucleotide Synthetase 1 2 3 5
  • FMN Adenylyltransferase 3 4
  • FAD Pyrophosphorylase 3 4
  • FAD Synthase 3 4
  • EC 2.7.7.2 4 54
  • FAD1 Flavin Adenine Dinucleotide Synthetase Homolog (S. Cerevisiae) 2
  • Fad1, Flavin Adenine Dinucleotide Synthetase, Homolog (Yeast) 2
  • Fad1, Flavin Adenine Dinucleotide Synthetase, Homolog 3
  • Flavin Adenine Dinucleotide Synthetase 2
  • Flavin Adenine Dinucleotide Synthase 4
  • FAD-Synthetase 3
  • EC 2.7.7 54
  • LSMFLAD 3
  • PP591 3
  • FAD1 3
  • FADS 3

External Ids for FLAD1 Gene

Previous GeneCards Identifiers for FLAD1 Gene

  • GC01P151769
  • GC01P153222
  • GC01P154955
  • GC01P126317

Summaries for FLAD1 Gene

Entrez Gene Summary for FLAD1 Gene

  • This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for FLAD1 Gene

FLAD1 (Flavin Adenine Dinucleotide Synthetase 1) is a Protein Coding gene. Diseases associated with FLAD1 include Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency and Multiple Acyl-Coa Dehydrogenase Deficiency. Among its related pathways are Selenium Micronutrient Network and Metabolism. Gene Ontology (GO) annotations related to this gene include FMN adenylyltransferase activity.

UniProtKB/Swiss-Prot Summary for FLAD1 Gene

  • Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.

Additional gene information for FLAD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FLAD1 Gene

Genomics for FLAD1 Gene

GeneHancer (GH) Regulatory Elements for FLAD1 Gene

Promoters and enhancers for FLAD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J154982 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 765.2 +0.3 289 2.9 E2F8 SIN3A SP1 ZBTB40 MLX POLR2A CEBPZ USF2 ATF1 FOS FLAD1 lnc-SHC1-2 GON4L UBAP2L KHDC4 YY1AP1 ENSG00000271267 DCST1 CLK2 LOC101928120
GH01J154985 Promoter 0.4 EPDnew 750.6 +1.9 1900 0.1 ZNF362 FLAD1 HSALNG0007455
GH01J155240 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 70.4 +259.6 259649 5.5 GTF3C2 E2F8 ZNF785 SIN3A ZNF24 SP1 ZBTB40 SIX5 ZBTB6 FOXA1 GBA lnc-FAM189B-2 GON4L KHDC4 CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3
GH01J154998 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 45.7 +23.2 23233 15.9 GTF3C2 ZNF785 SIN3A ZBTB40 SP1 CTCF SIX5 ZBTB6 FOXA1 MLX ZBTB7B GON4L UBAP2L CLK2 KHDC4 ENSG00000271267 DCST1 PYGO2 MSTO2P THBS3
GH01J154965 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 45.3 -11.2 -11240 12.2 PPP1R10 SIN3A ZBTB40 SP1 CTCF SREBF1 FOXA1 RBPJ SMARCE1 POLR2A SHC1 CKS1B GON4L UBAP2L CLK2 KHDC4 DCST1 ENSG00000271267 FLAD1 THBS3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FLAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FLAD1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for FLAD1 Gene

Genomic Locations for FLAD1 Gene
chr1:154,983,294-154,993,111
(GRCh38/hg38)
Size:
9,818 bases
Orientation:
Plus strand
chr1:154,955,770-154,965,587
(GRCh37/hg19)
Size:
9,818 bases
Orientation:
Plus strand

Genomic View for FLAD1 Gene

Genes around FLAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLAD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FLAD1 Gene

Proteins for FLAD1 Gene

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  • Protein details for FLAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFF5-FAD1_HUMAN
    Recommended name:
    FAD synthase
    Protein Accession:
    Q8NFF5
    Secondary Accessions:
    • Q8N5J1
    • Q8N686
    • Q8WU93
    • Q8WUJ4
    • Q96CR8
    • Q99764
    • Q9HBN6

    Protein attributes for FLAD1 Gene

    Size:
    587 amino acids
    Molecular mass:
    65266 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FLAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLAD1 Gene

Protein Expression for FLAD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FLAD1 Gene

Q8NFF5:
  • AVLMGTRRTDPYS
  • GDEILKGHTQDTN
  • GGIGPTHDDVTFE
  • FLQDTIKRY
  • TSRASEL

Post-translational modifications for FLAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FLAD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FLAD1 Gene

Gene Families for FLAD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for FLAD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FLAD1 Gene

GenScript: Design optimal peptide antigens:
  • Flavin adenine dinucleotide synthase (FAD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFF5

UniProtKB/Swiss-Prot:

FAD1_HUMAN :
  • The molybdenum cofactor biosynthesis protein-like region may not be functional.
  • In the N-terminal section; belongs to the MoaB/Mog family.
Domain:
  • The molybdenum cofactor biosynthesis protein-like region may not be functional.
Family:
  • In the N-terminal section; belongs to the MoaB/Mog family.
  • In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily.
genes like me logo Genes that share domains with FLAD1: view

Function for FLAD1 Gene

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  6. Cell Line

Molecular function for FLAD1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + FMN + H(+) = diphosphate + FAD; Xref=Rhea:RHEA:17237, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57692, ChEBI:CHEBI:58210; EC=2.7.7.2; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.5 uM for FMN {ECO:0000269 PubMed:16643857, ECO:0000269 PubMed:17049878}; KM=0.36 uM for FMN (isoform 2) {ECO:0000269 PubMed:16643857, ECO:0000269 PubMed:17049878}; Vmax=6.1 nmol/min/mg enzyme {ECO:0000269 PubMed:16643857, ECO:0000269 PubMed:17049878}; Vmax=3.9 nmol/min/mg enzyme (isoform 2) {ECO:0000269 PubMed:16643857, ECO:0000269 PubMed:17049878};

Enzyme Numbers (IUBMB) for FLAD1 Gene

Phenotypes From GWAS Catalog for FLAD1 Gene

Gene Ontology (GO) - Molecular Function for FLAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003919 FMN adenylyltransferase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with FLAD1: view

Phenotypes for FLAD1 Gene

GenomeRNAi human phenotypes for FLAD1:
genes like me logo Genes that share phenotypes with FLAD1: view

Human Phenotype Ontology for FLAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for FLAD1

CRISPR Products

miRNA for FLAD1 Gene

miRTarBase miRNAs that target FLAD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLAD1

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for FLAD1 Gene

Localization for FLAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLAD1 Gene

Isoform 1: Mitochondrion matrix.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLAD1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
mitochondrion 4
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with FLAD1: view

Pathways & Interactions for FLAD1 Gene

genes like me logo Genes that share pathways with FLAD1: view

UniProtKB/Swiss-Prot Q8NFF5-FAD1_HUMAN

  • Pathway: Cofactor biosynthesis; FAD biosynthesis; FAD from FMN: step 1/1.

Gene Ontology (GO) - Biological Process for FLAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006747 FAD biosynthetic process IEA,IBA --
GO:0006771 riboflavin metabolic process TAS --
genes like me logo Genes that share ontologies with FLAD1: view

No data available for SIGNOR curated interactions for FLAD1 Gene

Drugs & Compounds for FLAD1 Gene

Products:

  1. Drug

(6) Drugs for FLAD1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flavin Mononucleotide Approved, Investigational Pharma 10
FAD Approved Pharma 0
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(3) Additional Compounds for FLAD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
 14000-31-8
genes like me logo Genes that share compounds with FLAD1: view

Transcripts for FLAD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FLAD1 Gene

(4) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(300) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLAD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FLAD1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - -
SP9: -
SP10: - -
SP11: - - - -
SP12: - -
SP13: - -
SP14: - - -
SP15: - - - - - -
SP16: - - - - -
SP17: - - -

ExUns: 12 ^ 13a · 13b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for FLAD1 Gene

GeneLoc Exon Structure for
FLAD1
ECgene alternative splicing isoforms for
FLAD1

Expression for FLAD1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FLAD1 Gene

mRNA expression in normal human tissues for FLAD1 Gene
mRNA expression by GTEx for FLAD1 GenemRNA expression by BioGPS for FLAD1 Gene

Protein differential expression in normal tissues from HIPED for FLAD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.0), Bone (13.1), and Salivary gland (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FLAD1 Gene



Protein tissue co-expression partners for FLAD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FLAD1 Gene:

FLAD1

SOURCE GeneReport for Unigene cluster for FLAD1 Gene:

Hs.118666

Evidence on tissue expression from TISSUES for FLAD1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Intestine(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with FLAD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FLAD1 Gene

Orthologs for FLAD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FLAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FLAD1 33 32
  • 99.52 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia FLAD1 33 32
  • 88.98 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FLAD1 33 32
  • 88.1 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Flad1 32
  • 86.84 (n)
mouse
(Mus musculus)
 Mammalia Flad1 17 33 32
  • 86.23 (n)
oppossum
(Monodelphis domestica)
 Mammalia FLAD1 33
  • 73 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FLAD1 33
  • 63 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FLAD1 33 32
  • 64.17 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FLAD1 33
  • 61 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii flad1 33 32
  • 58.98 (n)
 OneToOne
Dr.27212 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1643 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002740 32
  • 53.33 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG4407 33 32
  • 51.69 (n)
 OneToMany
CG16848 33
  • 41 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea flad-1 33 32
  • 47.1 (n)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AER198W 32
  • 45.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FAD1 35 33 32
  • 45.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E13377g 32
  • 44.96 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU09233 32
  • 50.3 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC1235.04c 32
  • 46.03 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10620 33
  • 44 (a)
 OneToOne
Species where no ortholog for FLAD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FLAD1 Gene

ENSEMBL:
Gene Tree for FLAD1 (if available)
TreeFam:
Gene Tree for FLAD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FLAD1: view image

Paralogs for FLAD1 Gene

No data available for Paralogs for FLAD1 Gene

Variants for FLAD1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for FLAD1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs761928040 likely-benign, Glutaric aciduria, type 2 154,988,240(+) T/C coding_sequence_variant, missense_variant
rs771466122 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, not provided, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) [MIM:255100] 154,992,746(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs876661309 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 154,990,456(+) CTCCT/CT coding_sequence_variant, genic_downstream_transcript_variant, inframe_deletion
rs876661310 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 154,988,300(+) GC/GCGC coding_sequence_variant, frameshift
rs876661311 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 154,988,567(+) TT/T coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for FLAD1 Gene

Variant ID Type Subtype PubMed ID
nsv509502 CNV insertion 20534489

Variation tolerance for FLAD1 Gene

Residual Variation Intolerance Score: 34.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FLAD1 Gene

Human Gene Mutation Database (HGMD)
FLAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLAD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLAD1 Gene

Disorders for FLAD1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FLAD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FLAD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FAD1_HUMAN
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) [MIM:255100]: An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients. {ECO:0000269 PubMed:27259049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FLAD1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FLAD1: view

No data available for Genatlas for FLAD1 Gene

Publications for FLAD1 Gene

  1. Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase. (PMID: 16643857) Brizio C … Barile M (Biochemical and biophysical research communications 2006) 3 4 23 56
  2. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. (PMID: 27259049) Olsen RKJ … Prokisch H (American journal of human genetics 2016) 3 4 56
  3. Mitochondrial localization of human FAD synthetase isoform 1. (PMID: 20060505) Torchetti EM … Barile M (Mitochondrion 2010) 4 23 56
  4. Specific electron transport chain abnormalities in amyotrophic lateral sclerosis. (PMID: 19240958) Lin J … Sadiq SA (Journal of neurology 2009) 3 23 56
  5. Over-expression in Escherichia coli, purification and characterization of isoform 2 of human FAD synthetase. (PMID: 17049878) Galluccio M … Barile M (Protein expression and purification 2007) 4 23 56

ExternalLinks

View latest publications for FLAD1 gene in Mastermind

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