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80308 FLAD1

80308

FLAD1

flavin adenine dinucleotide synthetase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition flavin adenine dinucleotide synthetase 1

研究结论

Date Results Publications
2020-06-20 10:27:00 FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. 31392824
2020-04-25 11:00:00 Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding. 31835305
2017-05-13 20:31:00 Frameshift mutation in the FADS gene is Associated with Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. 27259049
2010-01-21 00:00:00 Our data show that a reduction in electron transport proteins, namely FAD synthetase, RFK, CYC1, and SDHB, is seen in patients with ALS. 19240958

名称对应

Type IDs
Synonymous FAD1, FADS, LSMFLAD, PP591
Gene
UniProtKB-ID: FAD1_HUMAN
UniprotKB: Q8NFF5
UniParc: UPI00015B3BB7, UPI00000735B2, UPI000000D7B4, UPI0000072FC0, UPI000006E0DF
EMBL: AF520568, BC014012, BC021096, BC011378, DQ458779, AF481877, AF218022, U79241, CH471121, AL451085, BC020253, BC032323
Ensembl: ENSG00000160688
KO: hsa:80308
Nucleutide sequences
EMBL-CDS: EAW53154.1, AAH20253.1, AAH32323.1, AAH21096.2, AAM77338.1, AAG17264.1, EAW53155.1, AAO49318.1, AAH14012.2, AAB50199.1, EAW53159.1, EAW53158.1, ABE65383.1, AAH11378.1
Gene_ORFName: PP591
Ensembl_TRS: ENST00000292180, ENST00000368431, ENST00000368432, ENST00000315144
Protein sequencees
Ensembl_PRO: ENSP00000357417, ENSP00000357416, ENSP00000317296, ENSP00000292180
RefSeq: NP_958800.1, NP_001171821.1, NP_001171820.1, NP_079483.3
Others
UniRef100: UniRef100_Q8NFF5
UniRef90: UniRef90_Q8NFF5
UniRef50: UniRef50_Q8NFF5
UniGene: Hs.118666
CCDS: CCDS1079.1, CCDS53372.1, CCDS53371.1, CCDS1078.1

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