Type | Description |
---|---|
Definition | succinyl-CoA:glutarate-CoA transferase |
Date | Results | Publications |
---|---|---|
2018-10-13 12:12:00 | Chromosome microarray analysis showed a 125kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis. | 29421601 |
2014-09-13 12:41:00 | C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, which is the enzyme that converts glutarate to glutaryl-CoA | 23893049 |
2012-06-07 14:50:00 | Identified as a candidate disease gene for OXPHOS disorders by next-generation sequencing | 22277967 |
2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
2010-09-15 22:06:00 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | 20628086 |
Type | IDs |
---|---|
Synonymous | C7orf10, DERP13, GA3, ORF19 |
Gene |
UniProtKB-ID:
SUCHY_HUMAN,
B4DJF0_HUMAN
UniprotKB:
Q9HAC7,
B4DJF0
UniParc:
UPI0000551BCD,
UPI000006EF06,
UPI000013EF6B,
UPI00005520A3,
UPI00017A7203
EMBL:
AC026866,
CH236951,
AC005160,
AC004988,
AF397013,
BC098310,
AC005030,
BC098261,
AC006023,
AK299133,
AB014767,
CH471073,
BC098318,
AC092030,
AK296048,
AC079149,
AK021870,
AC025536,
BC098117
Ensembl:
ENSG00000175600
KO:
hsa:79783
|
Nucleutide sequences |
EMBL-CDS:
AAH98310.1,
BAG61185.1,
AAH98117.1,
BAB13922.1,
BAB87807.1,
EAW94136.1,
AAL76418.1,
AAH98261.1,
AAH98318.1,
EAL24000.1,
BAG58812.1
Ensembl_TRS:
ENST00000401647,
ENST00000335693,
ENST00000628514
|
Protein sequencees |
Ensembl_PRO:
ENSP00000385222,
ENSP00000486291,
ENSP00000338475
RefSeq:
XP_011513828.1,
XP_011513830.1,
XP_011513827.1,
NP_001180242.2,
XP_016868110.1,
XP_011513831.1,
NP_001180241.2,
NP_001180240.2,
XP_006715838.1,
NP_079004.2,
XP_016868111.1,
XP_011513829.1,
XP_011513832.1
|
Others |
UniRef100:
UniRef100_Q9HAC7
UniRef90:
UniRef90_Q9HAC7
UniRef50:
UniRef50_Q9HAC7
UniGene:
Hs.586313
|
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Refseq |
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