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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Dhtkd1 - dehydrogenase E1 and transketolase domain containing 1
Alias:
E1a
OADC-E1
OADH-E1
C330018I04Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
氧化谷氨酸脱氢酶(琥珀酸转移)活性和硫胺素焦磷酸盐结合活性。在造血祖细胞分化上游或内部发挥作用。预测位于线粒体中。用于研究Charcot-Marie-Tooth疾病轴2Q型和氨基酸代谢紊乱的研究。该基因的人类同源物与2-氨基腺苷-2-酮腺苷酸尿症和Charcot-Marie-Tooth疾病轴2Q型有关。与人类DHTKD1(脱氢酶E1和转酮酶结构域含有1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:209692
ENSEMBL:ENSMUSG00000025815
UNIPROT:A2ATU0
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
209692
8
17
46619 bp
102.79
8
6
Dhtkd1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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