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122961 ISCA2

122961

ISCA2

iron-sulfur cluster assembly 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition iron-sulfur cluster assembly 2

研究结论

Date Results Publications
2020-11-21 13:14:00 Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery. 31831856
2019-04-27 11:38:00 these data indicate loss of ISCA2 impaired function of 4Fe-4S proteins resulting in a fatal encephalopathy accompanied by a relatively unusual combination of features including mtDNA depletion alongside complex II deficiency and hyperglycinemia that may facilitate diagnosis of ISCA2 deficiency patients. 29297947
2016-03-05 10:28:00 We identified a homoallelic missense founder mutation in ISCA2 leading to mitochondrial depletion and reduced complex I activity as well as decreased ISCA2, ISCA1 and IBA57 expression in fibroblasts. 25539947
2014-06-28 13:02:00 The structural plasticity of the dimeric state of the [2Fe-2S] bound form of human GRX5 is the crucial factor that allows an efficient cluster transfer to the partner proteins human ISCA1 and ISCA2 by a specific protein-protein recognition mechanism. 24733926
2012-09-15 10:47:00 ISCA1, ISCA2, and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis. 22323289

名称对应

Type IDs
Synonymous HBLD1, ISA2, MMDS4, c14_5557
Gene
UniProtKB-ID: ISCA2_HUMAN
UniprotKB: Q86U28
UniParc: UPI00021CF18F, UPI00001C1F73
EMBL: BC015771, AK290728, AC005479, BC032893, CH471061, BX248252
Ensembl: ENSG00000165898
KO: hsa:122961
Nucleutide sequences
EMBL-CDS: CAD62580.1, AAH15771.2, BAF83417.1, AAH32893.1, EAW81180.1
Ensembl_TRS: ENST00000554924, ENST00000556816
Protein sequencees
Ensembl_PRO: ENSP00000450523, ENSP00000452007
RefSeq: NP_919255.2, NP_001258936.1
Others
UniRef100: UniRef100_Q86U28
UniRef90: UniRef90_Q86U28
UniRef50: UniRef50_Q86U28
UniGene: Hs.291079
CCDS: CCDS32122.1, CCDS61504.1

全选

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