DHTKD1 - dehydrogenase E1 and transketolase domain containing 1 Gene

中文名称：含脱氢酶 E1 和转酮醇酶结构域 1

种属: Homo sapiens

同用名: E1a; AAKAD; CMT2Q; AMOXAD; OADC-E1; OADH-E1

基因 ID: 55526 | 基因类型: protein coding

关于 DHTKD1

Cytogenetic location: 10p14 Genomic coordinates (GRCh38): 10:12,068,954-12,123,221 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in liver (RPKM 30.3), kidney (RPKM 21.7) and 24 other tissues.

功能概要

该基因编码线粒体 2-酮戊二酸脱氢酶复合物样蛋白的一个成分，该蛋白参与多种氨基酸 (包括赖氨酸) 的降解途径。该基因的突变与 2-氨基己二酸 2-氧代己二酸尿症和 Charcot-Marie-Tooth 病 2Q 型有关。[RefSeq 提供，2013 年 5 月]

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several Amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

DHTKD1 基因产物(1)

mRNA	Protein	Name
NM_018706.7	NP_061176.4	2-oxoadipate dehydrogenase complex component E1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 2-oxoadipate dehydrogenase activity	IDA IDA: 通过直接分析推断	29191460	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	28514442	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in generation of precursor metabolites and energy	IMP IMP: 通过突变表型推断	23141294	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrion	IDA IDA: 通过直接分析推断	23141294	GOA
part of oxoadipate dehydrogenase complex	IDA IDA: 通过直接分析推断	29191460	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DHTKD1 蛋白结构

E1_dh

Transket_pyr

0
200
400
600
800
919 a.a.

蛋白主名

其他名称

2-oxoadipate dehydrogenase complex component E1

2-oxoadipate dehydrogenase, mitochondrial

关联疾病

疾病名称

别名

Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria

2-Aminoadipic 2-Oxoadipic Aciduria	Amoxad
AAKAD	2-Ketoadipic Aciduria
Alpha-Aminoadipic Aciduria	Amino Adipic Aciduria
Aciduria, 2-Aminoadipic 2-Oxoadipic

Charcot-Marie-Tooth Disease, Axonal, Type 2q

Charcot-Marie-Tooth Disease Axonal Type 2q	CMT2Q
Charcot-Marie-Tooth Neuropathy, Type 2q	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Neuropathy Type 2q	Charcot-Marie-Tooth Disease 2q
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q	Charcot-Marie-Tooth Neuropathy Axonal Type 2q

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Hyperlysinemia, Type I

Hyperlysinemia	Lysine Intolerance
Alpha-Aminoadipic Semialdehyde Synthase Deficiency	Lysine:Alpha-Ketoglutarate Reductase Deficiency
L-Lysine:Nad-Oxido-Reductase Deficiency	Lysine Alpha-Ketoglutarate Reductase Deficiency
Alpha-Aminoadipic Semialdehyde Deficiency Disease	Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Saccharopinuria	Hyperlysinemia Type I
Hyperlysinemias	L-Lysine Nad-Oxido-Reductase Deficiency
Familial Hyperlysinemia	Saccharopine Dehydrogenase Deficiency Disease
Hyperlysinemia, 1	HYPLYS1
Saccharopine Dehydrogenase Deficiency

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency	GA1
Glutaric Acidemia Type 1	Glutaric Aciduria 1
Glutaric Aciduria Type 1	Glutaric Acidemia Type I
Glutaric Aciduria, Type 1	Glutaric Aciduria I
Ga I	Glutaricaciduria, Type I
Glutaryl-Coenzyme A Dehydrogenase Deficiency	Glutaric Academia Type 1
Glutaric Aciduria Type I	Ga-1
Gcdh Deficiency	Ga 1
Glutaric Acidemia 1	Gcdhd
Glutaric Aciduria, Type I	Glutaricaciduria I
Ga-I	Glutaricaciduria, Type 1

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03747	DHTKD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21844	Dhtkd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	DHTKD1	RGD	RGD:1308092
Mus musculus	DHTKD1	MGD	MGI:2445096
Felis catus	DHTKD1	VGNC	VGNC:83866
Bos taurus	DHTKD1	VGNC	VGNC:28047
Canis familiaris	DHTKD1	VGNC	VGNC:39938

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

DHTKD1 - dehydrogenase E1 and transketolase domain containing 1 Gene

关于 DHTKD1

功能概要

DHTKD1 基因产物(1)

DHTKD1 蛋白结构

关联疾病

直系同源

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DHTKD1 - dehydrogenase E1 and transketolase domain containing 1 Gene

关于 DHTKD1

功能概要

DHTKD1 基因产物(1)

DHTKD1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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F

G

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