PDHX - pyruvate dehydrogenase complex component X Gene

中文名称：丙酮酸脱氢酶复合物成分 X

种属: Homo sapiens

同用名: E3BP; OPDX; PDX1; proX; DLDBP; PDHXD

基因 ID: 8050 | 基因类型: protein coding

关于 PDHX

Cytogenetic location: 11p13 Genomic coordinates (GRCh38): 11:34,915,920-34,996,128 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 24.7), testis (RPKM 13.6) and 25 other tissues.

功能概要

丙酮酸脱氢酶 (PDH) 复合物位于线粒体基质中，催化丙酮酸转化为乙酰辅酶 A。因此，PDH 复合物将糖酵解与克雷布斯循环联系起来。 PDH 复合物包含三个催化亚基 E1、E2 和 E3，两个调节亚基 E1 激酶和 E1 磷酸酶，以及一个非催化亚基 E3 结合蛋白 (E3BP) 。该基因编码 E3 结合蛋白亚基；也称为丙酮酸脱氢酶复合物的组分 X。这种蛋白质将 E3 二聚体连接到 PDH 复合体的 E2 核心。该基因的缺陷是丙酮酸脱氢酶缺乏症的一个原因，它会导致婴儿期和幼儿期的神经功能障碍和乳酸性酸中毒。这种蛋白质也是抗线粒体抗体的次要抗原。这些自身抗体存在于近 95% 的自身免疫性肝病原发性胆汁性肝硬化 (PBC) 患者中。在 PBC 中，活化的 T 淋巴细胞攻击并破坏胆管中的上皮细胞，该蛋白质在该处异常分布和过度表达。 PBC 最终导致肝硬化和肝功能衰竭。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2009 年 10 月]

The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 Phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial Antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

PDHX 基因产物(3)

mRNA	Protein	Name
NM_001135024.2	NP_001128496.2	pyruvate dehydrogenase protein X component, mitochondrial isoform 2
NM_001166158.2	NP_001159630.1	pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor
NM_003477.3	NP_003468.2	pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor

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 protein binding	IPI IPI: 通过物理相互作用推断	16263718	GOA
contributes to pyruvate dehydrogenase (NAD+) activity	IDA IDA: 通过直接分析推断	9242632	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in acetyl-CoA biosynthetic process from pyruvate	IDA IDA: 通过直接分析推断	24534072	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of pyruvate dehydrogenase complex	IDA IDA: 通过直接分析推断	9242632	GOA
part of pyruvate dehydrogenase complex	IPI IPI: 通过物理相互作用推断	19240034	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

PDHX 蛋白结构

Biotin_lipoyl

E3_binding

2-oxoacid_dh

0
100
200
300
400
501 a.a.

蛋白主名

其他名称

pyruvate dehydrogenase protein X component, mitochondrial

dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex

PDHX 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	PDHX	O00330	DLD	Homo sapiens	P09622	Y2H Array	32296183
种属内	PDHX	O00330	DLD	Homo sapiens	P09622	ITC	16442803
种属内	PDHX	O00330	DLD	Homo sapiens	P09622	Y2H Prey Pooling	32296183
种属内	PDHX	O00330	DLD	Homo sapiens	P09622	X-Ray Diffraction	16442803
种属内	PDHX	O00330	DLD	Homo sapiens	P09622	Validated Y2H	32296183
种属内	PDHX	O00330	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
种属内	PDHX	O00330	CIDEB	Homo sapiens	Q9UHD4	Validated Y2H	32296183
种属内	PDHX	O00330	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
种属内	PDHX	O00330	AGTRAP	Homo sapiens	Q6RW13	Validated Y2H	25416956
种属内	PDHX	O00330	AGTRAP	Homo sapiens	Q6RW13	Y2H Array	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Pyruvate Dehydrogenase E3-Binding Protein Deficiency

Lacticacidemia Due To Pdx1 Deficiency	PDHXD
Lactic Acidemia Due To Defect In Lipoyl-Containing Component X Of The Pyruvate Dehydrogenase Complex	2-Oxoglutarate Complex Deficiency
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency	Diaphorase Deficiency
Dihydrolipoyl Dehydrogenase Deficiency	Glycine Cleavage System L Protein Deficiency
Lipoamide Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Component E3 Deficiency
Pyruvate Dehydrogenase Protein X Component Deficiency	Nadh Cytochrome B5 Reductase Deficiency

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Decarboxylase Deficiency	Pdh Deficiency
PDHAD	Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia With Lactic Acidosis I	Ataxia With Lactic Acidosis 1
Pdh	Pdhc
Ataxia With Lactic Acidosis	Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency	Deficiency Of Pyruvic Dehydrogenase
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency	Pdc Deficiency
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency	Pdhc Deficiency
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency	Ataxia Intermittent With Abnormal Pyruvate Metabolism
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency	Pyruvate Dehydrogenase E1 Alpha Deficiency
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency	Ataxia With Lactic Acidosis 2

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Deafness, Autosomal Dominant 68

DFNA68	Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Deafness 68	Deafness, Autosomal Dominant, 68

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

CMTX6	Charcot-Marie-Tooth Disease X-Linked Dominant 6
Cmt6x	X-Linked Charcot-Marie-Tooth Disease Type 6
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6	Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6
Charcot-Marie-Tooth Neuropathy X-Linked 6	Charcot-Marie-Tooth Disease, X-Linked, Type 6

Primary Biliary Cholangitis

Primary Biliary Cirrhosis	Biliary Liver Cirrhosis
Chronic Nonsuppurative Destructive Cholangitis	Familial Primary Biliary Cirrhosis
Pbc	Hanot Syndrome
Cholestatic Cirrhosis	Biliary Cirrhosis Primary
Liver Cirrhosis, Biliary	Hanot'S Cirrhosis
Biliary Cirrhosis	Pericholangiolic Biliary Cirrhosis
Tannhauser-Magendantz Syndrome	Hanot-Rossle Syndrome
Hypertrophic Cirrhosis	Todd Cirrhosis
Hanot Cirrhosis	Charcot Cirrhosis
Mahon-Tannhauser Syndrome	Toxic Cirrhosis
Hypertrophic Biliary Cirrhosis	Monolobular Cirrhosis
Unilobar Cirrhosis	Xanthomatous Biliary Cirrhosis

Severe Congenital Neutropenia 6

Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency

Scn6

Autoimmune Cholangitis

Autoimmune Cholangiopathy

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries	DTGA1
Dextro-Looped Transposition Of The Great Arteries	DTGA
Congenitally Uncorrected Transposition Of The Great Arteries	Congenitally Uncorrected Transposition Of The Great Vessels
D-Tga	Isolated Ventriculoarterial Discordance
Ventriculoarterial Discordance With Atrioventricular Concordance	Dextro-Transposition Of The Great Arteries
Transposition Of The Great Vessels	Great Vessels Transposition
Transposition Of The Great Arteries, Dextro-Looped 1	Arteries, Great, Transposition, Dextro-Looped
Ventriculoarterial Discordance, Isolated	D-Transposition Of The Great Arteries
Complete Transposition	Tga
Tgv	Transposition Of Great Vessels
Transposition Of The Great Arteries Dextro-Looped 1	Dextro-Looped Transposition Of The Great Arteries 1
Discordant Ventriculoarterial Connection	Complete Transposition Of Great Vessels
Great Vessels Complete Transposition	Total Great Vessel Transposition
Transposition Of Great Arteries	Complete Tga - [Transposition Of The Great Arteries]
Tga - [Transposition Of Great Arteries]	Tgv - [Transposition Of Great Vessels]
Transposition Of Great Vessels Nos	Transposed Vessels Nos

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-RS10264	PDHX Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	PDHX	VGNC	VGNC:64083
Macaca mulatta	PDHX	VGNC	VGNC:75845
Rattus norvegicus	PDHX	RGD	RGD:1566332
Bos taurus	PDHX	VGNC	VGNC:32695
Canis familiaris	PDHX	VGNC	VGNC:44375
Mus musculus	PDHX	MGD	MGI:1351627

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PDHX - pyruvate dehydrogenase complex component X Gene

关于 PDHX

功能概要

PDHX 基因产物(3)

PDHX 蛋白结构

PDHX 蛋白互作信息

关联疾病

直系同源

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PDHX - pyruvate dehydrogenase complex component X Gene

关于 PDHX

功能概要

PDHX 基因产物(3)

PDHX 蛋白结构

PDHX 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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