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27034 ACAD8

27034

ACAD8

acyl-CoA dehydrogenase family member 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition acyl-CoA dehydrogenase family member 8

研究结论

Date Results Publications
2015-09-26 18:28:00 we discovered a novel c.1156_1158delCAG mutation in ACAD8 in patients with isobutyryl-CoA dehydrogenase deficiency , and investigated the mutation spectrum of ACAD8. 24635911
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 first enzymatic and molecular confirmation of a deficiency of this enzyme in a patient 12359132
2008-03-13 08:55:00 Observational study of gene-disease association. (HuGE Navigator) 17387528

名称对应

Type IDs
Synonymous ACAD-8, ARC42
Gene
UniProtKB-ID: ACAD8_HUMAN
UniprotKB: Q9UKU7
UniParc: UPI00001251DD, UPI0001914EF2, UPI0000001BE3
EMBL: AF260684, AF260681, AF260682, AF126245, AF260686, AK000359, AF260688, AF260683, BC001964, AF260679, AF260687, AK299492, AP000859, AK074640, AF260685, AF260680, CH471065, AF260689
Ensembl: ENSG00000151498
KO: hsa:27034
Nucleutide sequences
EMBL-CDS: BAC11107.1, AAF12736.1, BAA91109.1, EAW67833.1, AAH01964.1, AAF97922.1, BAH13050.1
Ensembl_TRS: ENST00000281182, ENST00000374752
Protein sequencees
Ensembl_PRO: ENSP00000363884, ENSP00000281182
RefSeq: XP_016873031.1, XP_016873033.1, XP_016873035.1, XP_011541052.1, NP_055199.1, XP_024304205.1, XP_016873036.1, XP_016873034.1, XP_005271562.1, XP_016873038.1, XP_016873037.1, XP_016873032.1, XP_024304206.1
Others
UniRef100: UniRef100_Q9UKU7
UniRef90: UniRef90_Q9UKU7
UniRef50: UniRef50_Q9UKU7
UniGene: Hs.14791
CCDS: CCDS8498.1

全选

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