FLAD1 (flavin adenine dinucleotide synthetase 1)

2014-11-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
FAD1,FADS,LSMFLAD,PP591
FUSION GENES

Other Information

Locus ID:

NCBI: 80308
MIM: 610595
HGNC: 24671
Ensembl: ENSG00000160688

Variants:

dbSNP: 80308
ClinVar: 80308
TCGA: ENSG00000160688
COSMIC: FLAD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160688ENST00000292180Q8NFF5
ENSG00000160688ENST00000295530Q5T191
ENSG00000160688ENST00000315144Q8NFF5
ENSG00000160688ENST00000368428Q5T190
ENSG00000160688ENST00000368431Q8NFF5
ENSG00000160688ENST00000368432Q8NFF5
ENSG00000160688ENST00000368433Q5T196

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Riboflavin metabolismKEGGko00740
Riboflavin metabolismKEGGhsa00740
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B2 (riboflavin) metabolismREACTOMER-HSA-196843

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
272590492016Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.21
192409582009Specific electron transport chain abnormalities in amyotrophic lateral sclerosis.9
313928242019FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.2
318353052019Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding.1

Citation

Dessen P

FLAD1 (flavin adenine dinucleotide synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63408/flad1