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2232 FDXR

2232

FDXR

ferredoxin reductase

protein-coding

Homo sapiens

基因描述

Type Description
Definition ferredoxin reductase

研究结论

Date Results Publications
2021-03-06 13:26:00 In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation. 33113898
2020-11-21 13:32:00 FDXR regulates TP73 tumor suppressor via IRP2 to modulate aging and tumor suppression. 32304229
2018-12-22 10:03:00 These data provide further insight into the pathogenic mechanism of FDXR-mediated central neuropathy, and suggest an avenue for mechanistic studies that will ultimately inform treatment. 30250212
2018-07-21 10:34:00 we identified a novel disease-causing gene FDXR associated with mitochondrial diseases. The biallelic FDXR mutations cause optic atrophy and neuropathy. we found that FDXR levels are significantly lower in the patient fibroblast cells with the homozygous mutations R392W. Fourteen missense or nonsense FDXR mutations were identified in this study and eight of them (I143F, V158M, T211A, I213F, K280*, R315*, C359Y, D374N) clu 29040572
2017-12-16 11:29:00 Using surface plasmon resonance, physiologically relevant concentrations of isatin (25-100 muM) were found to increase affinity of interactions between human recombinant ferrochelatase (FECH) and NADPH-dependent adrenodoxin reductase (ADR). 28905435

名称对应

Type IDs
Synonymous ADXR, ANOA
Gene
UniProtKB-ID: ADRO_HUMAN, A0A0A0MTN9_HUMAN, A0A0C4DFN8_HUMAN, A0A0A0MTR6_HUMAN, A0A0A0MSZ4_HUMAN, A0A0A0MT64_HUMAN, A0A0C4DGN7_HUMAN
UniprotKB: P22570, A0A0A0MTN9, A0A0C4DFN8, A0A0A0MTR6, A0A0A0MSZ4, A0A0A0MT64, A0A0C4DGN7
UniParc: UPI0001915315, UPI0000169E22, UPI0000125608, UPI0001AE66D4, UPI000002A369, UPI00017A787B, UPI0004620999, UPI00046209B4, UPI0004620CDF, UPI0000D4E2EE, UPI0004620E76, UPI000016A4AC, UPI00017A7105
EMBL: M58508, AC087651, AK293208, AK298908, AK301779, AK301977, M58509, AK295307, DQ085780, BC002960, AC068874, J03826
Ensembl: ENSG00000161513
KO: hsa:2232
Nucleutide sequences
EMBL-CDS: AAA51668.1, AAH02960.1, AAB59497.1, BAG61016.1, BAG58287.1, AAA51669.1, BAG63236.1, BAG56748.1, AAB59498.1, BAH13598.1, AAY68215.1
Ensembl_TRS: ENST00000420580, ENST00000544854, ENST00000293195, ENST00000582944, ENST00000413947, ENST00000442102, ENST00000581530
Protein sequencees
Ensembl_PRO: ENSP00000414172, ENSP00000445432, ENSP00000293195, ENSP00000462183, ENSP00000408595, ENSP00000416515, ENSP00000462972
RefSeq: NP_001244941.2, NP_004101.3, NP_001244944.1, NP_077728.3, NP_001244943.2, NP_001244942.2, NP_001244945.2
Others
UniRef100: UniRef100_A0A0A0MT64, UniRef100_A0A0C4DFN8, UniRef100_P22570, UniRef100_A0A0C4DGN7, UniRef100_A0A0A0MTN9, UniRef100_A0A0A0MTR6, UniRef100_A0A0A0MSZ4
UniRef90: UniRef90_P22570-2, UniRef90_P22570-7, UniRef90_P22570
UniRef50: UniRef50_P22570
UniGene: Hs.69745
CCDS: CCDS58595.1, CCDS58594.1, CCDS11707.1, CCDS58593.1, CCDS58592.1, CCDS58596.1, CCDS58591.1

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