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55739 NAXD

55739

NAXD

NAD(P)HX dehydratase

protein-coding

Homo sapiens

基因描述

Type Description
Definition NAD(P)HX dehydratase

研究结论

Date Results Publications
2019-08-24 10:56:00 results show that NAXD deficiency can be classified as a metabolite repair disorder in which accumulation of damaged metabolites likely triggers devastating effects in tissues such as the brain and the heart, eventually leading to early childhood death. 30576410
2014-06-21 10:09:00 Wide tissue distribution of dehydratase and epimerase is consistent with mRNA data for Carkd and Aibp, and their presence in both mitochondria and cytosol is explained by the existence of differently targeted forms of CARKD and AIBP. 24611804
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614

名称对应

Type IDs
Synonymous CARKD, LP3298, PEBEL2
Gene
UniProtKB-ID: NNRD_HUMAN, A0A024RDX4_HUMAN
UniprotKB: Q8IW45, A0A024RDX4
UniParc: UPI0000D4EC4B, UPI000007455F, UPI000013DD48, UPI000013EF72
EMBL: BC041028, AK024260, AK001631, CH471085, AK302117, AL139385
Ensembl: ENSG00000213995
KO: hsa:55739
Nucleutide sequences
EMBL-CDS: BAB14863.1, BAG63496.1, EAX09121.1, BAA91797.1, AAH41028.1, EAX09125.1, EAX09123.1
Gene_ORFName: hCG_32552
Ensembl_TRS: ENST00000424185, ENST00000309957
Protein sequencees
Ensembl_PRO: ENSP00000311984, ENSP00000413191
RefSeq: NP_060680.2, NP_001229811.1, NP_001229810.1, NP_001229812.1
Others
UniRef100: UniRef100_A0A024RDX4, UniRef100_Q8IW45
UniRef90: UniRef90_F7E727, UniRef90_Q8IW45
UniRef50: UniRef50_Q8IW45, UniRef50_F7E727
UniGene: Hs.408324
CCDS: CCDS55903.1, CCDS9513.1

全选

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