Aliases for FLAD1 Gene
Aliases for FLAD1 Gene
- Flavin Adenine Dinucleotide Synthetase 1 2 3 5
- FMN Adenylyltransferase 3 4
- FAD Pyrophosphorylase 3 4
- 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
External Ids for FLAD1 Gene
- HGNC: 24671
- Entrez Gene: 80308
- Ensembl: ENSG00000160688
- OMIM: 610595
- UniProtKB: Q8NFF5
Previous GeneCards Identifiers for FLAD1 Gene
- GC01P151769
- GC01P153222
- GC01P154955
- GC01P126317
Summaries 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 Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include FMN adenylyltransferase activity.
UniProtKB/Swiss-Prot for FLAD1 Gene
-
Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.
Additional gene information for FLAD1 Gene
- Monarch Initiative
- Search for FLAD1 at DataMed
- Search for FLAD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLAD1 Gene
Genomics for FLAD1 Gene
GeneHancer (GH) Regulatory Elements for FLAD1 Gene
Promoters and enhancers for FLAD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
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
- CREB
- deltaCREB
- c-Jun
Regulatory Element Products
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:
-
- 1q21.3 by Entrez Gene
- 1q21.3 by HGNC
- 1q21.3 by Ensembl
FLAD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FLAD1 Gene
Proteins for FLAD1 Gene
-
Protein details for FLAD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NFF5-FAD1_HUMAN
- Recommended name:
- FAD synthase
- Protein Accession:
- Q8NFF5
- 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
Protein Expression for FLAD1 Gene
Post-translational modifications for FLAD1 Gene
Other Protein References for FLAD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FLAD1
- Novus Biologicals Antibodies for FLAD1
- Invitrogen Antibodies for FLAD1
- GeneTex FLAD1 Antibody for FLAD1
-
Boster Bio Antibodies for FLAD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for FLAD1
Protein Products
-
OriGene Purified Proteins for FLAD1
- Search Origene for MassSpec and Protein Over-expression Lysates for FLAD1
- Origene Custom Protein Services for FLAD1
- antibodies-online: Search results for 4 available SPCC1235.04c Proteins ranked by validation data
- Compare Top SPCC1235.04c Proteins
-
Quality Products:
- Search GeneTex for Proteins for FLAD1
Assay Products
No data available for DME Specific Peptides for FLAD1 Gene
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:
Graphical View of Domain Structure for InterPro Entry
Q8NFF5UniProtKB/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.
Function for FLAD1 Gene
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:
- ATP + FMN = diphosphate + FAD.
- 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
| 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 | -- |
Phenotypes for FLAD1 Gene
- GenomeRNAi human phenotypes for FLAD1:
Animal Model Products
-
Taconic Biosciences Mouse Models for FLAD1
- Cyagen custom Knockout/knockin (KOKI) mouse models for FLAD1
-
CRISPR Products
-
OriGene CRISPR knockouts for FLAD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLAD1
- genomics-online: gRNA clones - Search results for available SPCC1235.04c gene related products
- Applied Biological Materials CRISPR for FLAD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLAD1
- GenScript: Design CRISPR guide RNA sequences for FLAD1
miRNA for FLAD1 Gene
- miRTarBase miRNAs that target FLAD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLAD1
- Browse OriGene Inhibitory RNA Products For FLAD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLAD1
- genomics-online: shRNA clones - Search results for available SPCC1235.04c gene related products
Clone Products
- Sino Biological Human cDNA Clone for FLAD1
- VectorBuilder custom plasmid, inducible vectors for FLAD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FLAD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLAD1
- genomics-online: cdna clones - Search results for available SPCC1235.04c gene related products
- orf clones - Search results for available SPCC1235.04c gene related products
- Applied Biological Materials Clones for FLAD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FLAD1
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| mitochondrion | 4 |
| nucleus | 1 |
- Cytosol (3)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005759 | mitochondrial matrix | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for FLAD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Metabolism |
.37
|
|
| 3 | Folate Metabolism | ||
| 4 | Riboflavin metabolism | ||
Pathways by source for FLAD1 Gene
3 BioSystems pathways for FLAD1 Gene
4 Reactome pathways for FLAD1 Gene
2 KEGG pathways for FLAD1 Gene
UniProtKB/Swiss-Prot Q8NFF5-FAD1_HUMAN
- Pathway: Cofactor biosynthesis; FAD biosynthesis; FAD from FMN: step 1/1.
Interacting Proteins for FLAD1 Gene
Selected Interacting proteins:
Q8NFF5-FAD1_HUMAN
ENSP00000292180
for FLAD1 Gene via
IID
MINT
UniProtKB
STRING
GPS-Prot Interaction Network for FLAD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006747 | FAD biosynthetic process | IBA,IEA | -- |
| GO:0006771 | riboflavin metabolic process | TAS | -- |
| GO:0008152 | metabolic process | IEA | -- |
| GO:0055114 | oxidation-reduction process | IBA | -- |
No data available for SIGNOR curated interactions for FLAD1 Gene
Drugs & Compounds for FLAD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Flavin Mononucleotide | Approved, Investigational | Pharma | 8 | |||
| FAD | Approved | Pharma | 0 | |||
| Phosphoric acid | Approved | Pharma | 0 | |||
| Magnesium | Approved | Nutra | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for FLAD1 Gene
mRNA/cDNA for FLAD1 Gene
- (4) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (300) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000292180 2160 bps (uc001fgf.3)
- ENST00000295530 1211 bps (uc001fgh.1)
- ENST00000315144 1730 bps (uc001fge.3)
- ENST00000368428 1111 bps (uc057lka.1)
- ENST00000368431 1803 bps (uc001fgc.4)
Unigene Clusters for FLAD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FLAD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLAD1
- genomics-online: gRNA clones - Search results for available SPCC1235.04c gene related products
- Applied Biological Materials CRISPR for FLAD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLAD1
- GenScript: Design CRISPR guide RNA sequences for FLAD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLAD1
- Browse OriGene Inhibitory RNA Products For FLAD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLAD1
- genomics-online: shRNA clones - Search results for available SPCC1235.04c gene related products
Clone Products
- Sino Biological Human cDNA Clone for FLAD1
- VectorBuilder custom plasmid, inducible vectors for FLAD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FLAD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLAD1
- genomics-online: cdna clones - Search results for available SPCC1235.04c gene related products
- orf clones - Search results for available SPCC1235.04c gene related products
- Applied Biological Materials Clones for FLAD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FLAD1 Gene:
FLAD1SOURCE GeneReport for Unigene cluster for FLAD1 Gene:
Hs.118666Evidence on tissue expression from TISSUES for FLAD1 Gene
- Nervous system(4.8)
- Liver(4.4)
- Intestine(4.3)
- Skin(4.2)
Primer Products
-
OriGene qPCR primer pairs and template standards for FLAD1
-
OriGene qPCR primer pairs for FLAD1
- genomics-online: primer clones - Search results for available SPCC1235.04c gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FLAD1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FLAD1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FLAD1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Flad1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Flad1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FLAD1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FLAD1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FLAD1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FLAD1 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | flad1 34 33 |
|
OneToOne | |
| Dr.27212 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1643 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002740 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4407 34 33 |
|
OneToMany | |
| CG16848 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | flad-1 34 33 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AER198W 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FAD1 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E13377g 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09233 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC1235.04c 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10620 34 |
|
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
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLAD1 Gene
Disorders for FLAD1 Gene
(4) MalaCards diseases for FLAD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
|
|
| multiple acyl-coa dehydrogenase deficiency |
|
|
| riboflavin deficiency |
|
|
| brown-vialetto-van laere syndrome |
|
|
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
No data available for Genatlas for FLAD1 Gene
Publications for FLAD1 Gene
- 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 22 58
- 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 58
- Mitochondrial localization of human FAD synthetase isoform 1. (PMID: 20060505) Torchetti EM … Barile M (Mitochondrion 2010) 4 22 58
- Specific electron transport chain abnormalities in amyotrophic lateral sclerosis. (PMID: 19240958) Lin J … Sadiq SA (Journal of neurology 2009) 3 22 58
- 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 22 58
Products for FLAD1 Gene
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- Custom Antibody ServicesOriGene Antibodies for FLAD1
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- Taconic Biosciences Mouse Models for FLAD1
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- antibodies-online: Search results for available SPCC1235.04c related products ranked by validation data
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- antibodies-online: Search results for 4 available SPCC1235.04c Proteins ranked by validation data
- Compare Top SPCC1235.04c Proteins
- Quality Products:
- GeneTex FLAD1 Antibody for FLAD1
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- genomics-online: cdna clones - Search results for available SPCC1235.04c gene related products
- orf clones - Search results for available SPCC1235.04c gene related products
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLAD1
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- Boster Bio Antibodies for FLAD1
- Browse Boster Bio ELISA Kits
Sources for FLAD1 Gene
- (1) GeneCards
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- (34) PanEnsembl
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- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (42) GenAtlas
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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