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217666 L2hgdh

217666

L2hgdh

L-2-hydroxyglutarate dehydrogenase

protein-coding

Mus musculus

基因描述

Type Description
Definition L-2-hydroxyglutarate dehydrogenase

研究结论

Date Results Publications
2017-08-16 17:47:00 L2hgdh mutation leads to l-2-hydroxyglutarate accumulation, leukoencephalopathy, and neurodegeneration in mice. 28137912
2015-12-05 11:10:00 Data describe a mouse model of L-2-hydroxyglutaric aciduria where mouse with l2hgdh gene deficiency accumulates toxic levels of L-2-hydroxyglutarate mostly in brain and testis and shows significant brain spongiosis and learning deficit. 25763823

名称对应

Type IDs
Synonymous BC016226
Gene
UniProtKB-ID: L2HDH_MOUSE
UniprotKB: Q91YP0
UniParc: UPI0000021AA2
EMBL: AK145228, BC016226, AK168429, AK152450
Ensembl: ENSMUSG00000020988
KO: mmu:217666
Nucleutide sequences
EMBL-CDS: BAE40337.1, AAH16226.1, BAE26312.1, BAE31229.1
Ensembl_TRS: ENSMUST00000021370
Protein sequencees
Ensembl_PRO: ENSMUSP00000021370
RefSeq: NP_663418.1
Others
UniRef100: UniRef100_Q91YP0
UniRef90: UniRef90_Q91YP0
UniRef50: UniRef50_Q91YP0
UniGene: Mm.103362
CCDS: CCDS25953.1

全选

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