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501 ALDH7A1

501

ALDH7A1

aldehyde dehydrogenase 7 family member A1

protein-coding

Homo sapiens

基因描述

Type Description
Definition aldehyde dehydrogenase 7 family member A1

研究结论

Date Results Publications
2020-08-01 14:46:00 The study provides first evidence that the saccharopine pathway is the major route of lysine degradation in cultured human brain cells. These results support inhibition of the saccharopine pathway as a new treatment option for antiquitin deficiency. 30767241
2020-06-20 11:23:00 This report provides a comprehensive overview of known ALDH7A1 mutations that cause pyridoxine dependent epilepsy (PDE), and suggests that PDE may be more common than initially estimated. [review] 30043187
2020-01-04 10:09:00 Data show that NADH generated by aldehyde dehydrogenase 7 family, member A1 protein (ALDH7A1) targets brefeldin-A ADP-ribosylated substrate (BARS; CTBP1) to inhibit Coat Protein I (COPI) vesicle fission. 31492851
2019-06-29 11:13:00 Results suggest the NAD+ cofactor of aldehyde dehydrogenase 7 family member A1 protein (ALDH7A1) dramatically enhances tetramerization of the enzyme. 30184263
2019-03-23 11:37:00 Low ALDH7A1 protein levels correlated with poor clinical outcome. 30486822

名称对应

Type IDs
Synonymous ATQ1, EPD, PDE
Gene
UniProtKB-ID: AL7A1_HUMAN
UniprotKB: P49419
UniParc: UPI000013E425, UPI0000D4C5DE, UPI00020CDF33
EMBL: AC099513, AK297365, BC073174, AC093535, AF002696, AK312459, AK295526, S74728, BC071712, BC002515
Ensembl: ENSG00000164904
KO: hsa:501
Nucleutide sequences
EMBL-CDS: AAH02515.3, BAG58439.1, AAH71712.1, AAB31966.1, AAH73174.1, BAG59812.1, BAG35366.1, AAC51935.1
Ensembl_TRS: ENST00000409134, ENST00000553117
Protein sequencees
Ensembl_PRO: ENSP00000387123, ENSP00000448593
RefSeq: NP_001189333.2, NP_001188306.1, NP_001173.2
Others
UniRef100: UniRef100_P49419
UniRef90: UniRef90_P49419
UniRef50: UniRef50_P49419
UniGene: Hs.483239
CCDS: CCDS56380.2, CCDS4137.2

全选

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