2. Gene
  3. MCEE - methylmalonyl-CoA epimerase Gene

MCEE - methylmalonyl-CoA epimerase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：甲基丙二酰辅酶 A 差向异构酶

种属: Homo sapiens

同用名: MCE; MMCE; GLOD2

基因 ID: 84693 | 基因类型: protein coding

关于 MCEE

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:71,109,687-71,130,229 (from NCBI)

This gene has 5 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 12.0), kidney (RPKM 11.0) and 25 other tissues.

功能概要

该基因的产物在支链氨基酸降解过程中催化 D-和 L-甲基丙二酰辅酶 A 的相互转化。奇链长脂肪酸和其他代谢物。该基因的突变导致甲基丙二酰辅酶 A 差向异构酶缺乏症，表现为轻度至中度甲基丙二酸尿症。[RefSeq 提供，2008 年 7 月]

The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain Amino acids. odd chain-length fatty acids, and Other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]

MCEE 基因产物(1)

mRNA Protein Name
NM_032601.4 NP_115990.3 methylmalonyl-CoA epimerase, mitochondrial precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables methylmalonyl-CoA epimerase activity IDA
IDA: 通过直接分析推断
11481338 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-methylmalonyl-CoA metabolic process IDA
IDA: 通过直接分析推断
11481338 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

MCEE 蛋白结构

Glyoxalase_4

Glyoxalase_4: Glyoxalase/Bleomycin resistance protein/Dioxygenase superfamily (49 - 160)

  • 0
  • 100
  • 176 a.a.
蛋白主名 其他名称

methylmalonyl-CoA epimerase, mitochondrial

DL-methylmalonyl-CoA racemase

MCEE 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
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Validated Y2H
25910212
种属内
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Y2H Bait-Prey Pool
25910212
种属内
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
25910212
种属内
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
32296183
种属内
MCEE Q96PE7 AGTRAP Homo sapiens Q6RW13-2
Y2H Prey Pooling
32296183
种属内
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
25910212
种属内
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Y2H Bait-Prey Pool
25910212
种属内
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
25910212
种属内
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Y2H Prey Pooling
32296183
种属内
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
32296183
种属内
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9
Validated Y2H
25416956
种属内
MCEE Q96PE7 CMTM5 Homo sapiens Q96DZ9
Y2H Array
25416956
种属内
MCEE Q96PE7 STX8 Homo sapiens Q9UNK0
Validated Y2H
32296183
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
Methylmalonyl-Coa Epimerase Deficiency

Methylmalonic Acidemia Due To Methylmalonyl-Coa Epimerase Deficiency

Methylmalonyl-Coa Racemase Deficiency

Methylmalonic Aciduria Iii, Formerly

Mcee Deficiency

Methylmalonic Acidemia Due To Methylmalonyl-Coa Racemase Deficiency

Methylmalonic Aciduria Due To Methylmalonyl-Coa Epimerase Deficiency

Methylmalonic Aciduria Due To Methylmalonyl-Coa Racemase Deficiency

MCEED

Methylmalonic Aciduria Iii

Methylmalonic Aciduria Type 3
Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency

Spr Deficiency

Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

Srd

Drd Due To Srd

Dopa-Responsive Hypersomnia

Dyt-Spr

Dyt/Park-Spr

Sr-Deficient Drd

Autosomal Recessive Sepiapterin Reductase-Deficient Drd

Spr

DRDSPRD

Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

Psychomotor Disorders
Combined Malonic And Methylmalonic Aciduria

CMAMMA

Combined Malonic And Methylmalonic Acidemia

Aciduria, Combined Malonic And Methylmalonic
Metabolic Acidosis
Propionic Acidemia

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria
Methylmalonic Aciduria, Cbla Type

Methylmalonic Acidemia Cbla Type

Methylmalonic Aciduria Cbla Type

Methylmalonic Acidemia, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla

Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla

Methylmalonic Aciduria Type Cbla

MMAA

Methylmalonic Aciduria Type A

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A

Aciduria, Methylmalonic, Cbla Type

Methylmalonic Aciduria Cbla Type
Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic
Pancytopenia
Asphyxia Neonatorum

Birth Asphyxia

Postnatal Asphyxia

Asphyxia - Birth

Asphyxia, In Liveborn Infant

Hypoxia Neonatorum

Hypoxia, In Liveborn Infant

Intrapartum Asphyxia

Neonatal Asphyxia

Newborn Asphyxia

Asphyxia In Liveborn Infant

Asphyxia Of Newborn Nos

Perinatal Asphyxia

Perinatal Hypoxia

Newborn Asphyxiation
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08220 MCEE Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris MCEE VGNC VGNC:43073
Rattus norvegicus MCEE RGD RGD:1309966
Mus musculus MCEE MGD MGI:1920974
Bos taurus MCEE VGNC VGNC:31300
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z