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54902 TTC19

54902

TTC19

tetratricopeptide repeat domain 19

protein-coding

Homo sapiens

基因描述

Type Description
Definition tetratricopeptide repeat domain 19

研究结论

Date Results Publications
2017-09-23 12:25:00 TTC19 preserves the structural and functional integrity of mitochondrial respiratory complex III. UQCRFS1 produces N-terminal polypeptides, which remain bound to holocomplex III. UQCRFS1 fragments are rapidly removed, but when TTC19 is absent they accumulate within complex III, causing its structural and functional impairment. 28673544
2016-02-20 11:41:00 TTC19-deficient mitochondrial complex III deficiency displays substantial phenotypic variation. (Review) 25899669
2016-01-23 10:07:00 This study showed that TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder; normal MRC complex III activity does not exclude the diagnosis. 25887401
2014-09-27 10:59:00 A TTC19 mutation in spinocerebellar ataxia is identified in an Asian population. 24397319
2013-12-21 11:17:00 The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts. 23532514

名称对应

Type IDs
Synonymous 2010204O13Rik, MC3DN2
Gene
UniProtKB-ID: TTC19_HUMAN, A0A024RD83_HUMAN
UniprotKB: Q6DKK2, A0A024RD83
UniParc: UPI0000042226
EMBL: BC112107, BC011698, AK297783, AK055780, BC105128, BC073796, AK000350, AC002553, AK025958, AC006251, CH471222, AK056878
Ensembl: ENSG00000011295
KO: hsa:54902
Nucleutide sequences
EMBL-CDS: BAB15296.1, AAI05129.1, BAG60127.1, BAA91103.1, BAG51820.1, AAH11698.2, BAG51574.1, AAI12108.1, EAX04490.1, AAH73796.1, EAX04491.1
Gene_ORFName: hCG_28939
Ensembl_TRS: ENST00000261647
Protein sequencees
Ensembl_PRO: ENSP00000261647
RefSeq: NP_001258349.1, XP_016880291.2, XP_024306582.1, XP_016880290.2, NP_060245.3
Others
UniRef100: UniRef100_Q6DKK2
UniRef90: UniRef90_Q6DKK2
UniRef50: UniRef50_Q6DKK2
UniGene: Hs.462316
CCDS: CCDS11174.2

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