| Type | Description |
|---|---|
| Definition | L-2-hydroxyglutarate dehydrogenase |
| Date | Results | Publications |
|---|---|---|
| 2019-05-25 11:08:00 | Two novel L2HGDH mutations were identified in a Chinese family with L-2-hydroxyglutaric aciduria. | 30217188 |
| 2018-12-22 10:11:00 | In this study, we describe a large pedigree from Pakistan showing multiple neurological symptoms. Homozygosity mapping and Sanger sequencing revealed a novel missense mutation in L2HGDH gene. | 29458334 |
| 2018-11-10 11:57:00 | The mutations of the L2HGDH gene as the causes of L-2-hydroxyglutaric aciduria. | 29980873 |
| 2016-04-23 11:56:00 | c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family. | 26829733 |
| 2015-04-04 11:03:00 | Intragenic single nucleotide length polymorphisms and two extragenic microsatellites flanking the L2HGDH gene confirm the founder effect of c.241A>G mutation in the 14 studied cases. | 24573090 |
| Type | IDs |
|---|---|
| Synonymous | C14orf160, L2HGA |
| Gene |
UniProtKB-ID:
L2HDH_HUMAN
UniprotKB:
Q9H9P8
UniParc:
UPI0001EC964F,
UPI0000048F63
EMBL:
AL109758,
AK022680,
AL359397,
BC006117,
AY757363
Ensembl:
ENSG00000087299
KO:
hsa:79944
|
| Nucleutide sequences |
EMBL-CDS:
AAV52330.1,
AAH06117.1,
BAB14174.1
Ensembl_TRS:
ENST00000421284,
ENST00000267436
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000405559,
ENSP00000267436
RefSeq:
XP_011535468.1,
XP_016877146.1,
NP_079160.1,
XP_011535470.1,
XP_011535469.1,
XP_005268132.1,
XP_016877147.1,
XP_016877144.1,
XP_016877145.1
|
| Others |
UniRef100:
UniRef100_Q9H9P8
UniRef90:
UniRef90_Q9H9P8
UniRef50:
UniRef50_Q9H9P8
UniGene:
Hs.256034
CCDS:
CCDS9698.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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