1. Gene
  2. MCCC2 - methylcrotonyl-CoA carboxylase subunit 2 Gene

MCCC2 - methylcrotonyl-CoA carboxylase subunit 2 Gene

中文名称:甲基巴豆酰辅酶 A 羧化酶亚基 2

种属: Homo sapiens

同用名: MCCB; MCCCbeta

基因 ID: 64087 | 基因类型: protein coding

关于 MCCC2

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:71,587,340-71,658,706 (from NCBI)

This gene has 43 transcripts (splice variants), 1 gene allele, 204 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 27.1), kidney (RPKM 27.0) and 25 other tissues.

功能概要

该基因编码 3-甲基巴豆酰辅酶 A 羧化酶的小亚基。该酶作为异二聚体发挥作用,催化 3-甲基巴豆酰辅酶 A 的羧化作用,形成 3-甲基戊烯二酰辅酶 A。该基因的突变与 3-甲基巴豆酰甘氨酸尿症有关,这是一种亮氨酸分解代谢的常染色体隐性遗传病症。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2018 年 5 月]

This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This Enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]

MCCC2 基因产物(2)

mRNA Protein Name
NM_001363147.1 NP_001350076.1 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 2 precursor
NM_022132.5 NP_071415.1 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to methylcrotonoyl-CoA carboxylase activity IDA
IDA: 通过直接分析推断
17360195 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17360195 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of methylcrotonoyl-CoA carboxylase complex IDA
IDA: 通过直接分析推断
17360195 GOA
part of methylcrotonoyl-CoA carboxylase complex IPI
IPI: 通过物理相互作用推断
17360195 GOA
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
16023992 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
11170888 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

MCCC2 蛋白结构

Carboxyl_trans

Carboxyl_trans: Carboxyl transferase domain (76 - 553)

  • 0
  • 100
  • 200
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  • 400
  • 500
  • 563 a.a.
蛋白主名 其他名称

methylcrotonoyl-CoA carboxylase beta chain, mitochondrial

3-methylcrotonyl-CoA carboxylase 2

MCCC2 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
MCCC2 Q9HCC0 MCCC1 Homo sapiens Q96RQ3 27499296
种属内
MCCC2 Q9HCC0 CFTR Homo sapiens P13569 35156780
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
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MCC2D

Mcc2 Deficiency

3-Methylcrotonyl Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Ii

Methylcrotonylglycinuria, Type Ii

3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Type Ii

Mcgii

Methylcrotonylglycinuria Type Ii

3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria

Mcc Deficiency

Methylcrotonyl-Coa Carboxylase Deficiency

Bmcc Deficiency

3-Mcc Deficiency

3mcc

Mccd

3mcc Deficiency

Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Mcc

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

Deficiency Of Methylcrotonoyl-Coa Carboxylase

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Multiple Carboxylase Deficiency

Mcd

Holocarboxylase Synthetase Deficiency

Osteopetrosis, Autosomal Recessive 8

Autosomal Recessive Osteopetrosis 8

OPTB8

Osteopetrosis, Autosomal Recessive, Type 8

Bile Acid Synthesis Defect, Congenital, 1

CBAS1

Congenital Bile Acid Synthesis Defect 1

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Congenital Bile Acid Synthesis Defect Type 1

Basd1

Congenital Bile Acid Synthesis Defect, Type 1

3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of

3beta-Hsdh Deficiency

3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency

3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Neonatal Progressive Intrahepatic Cholestasis

Pfic4

Progressive Familial Intrahepatic Cholestasis Type 4

Bile Acid Synthesis Defect, Congenital, Type 1

Cholestasis, Progressive Familial Intrahepatic 4

Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Congenital Myasthenic Syndrome 1a

Congenital Myasthenic Syndrome 2a

CMS1A

Cms Iia

Congenital Myasthenic Syndrome Type Iia

Cms2a

Myasthenic Syndrome, Congenital, Type Iia, Formerly

Cms2a, Formerly

Cms Iia, Formerly

Congenital Myasthenic Syndrome 1a, Slow-Channel

Congenital Myasthenic Syndrome 2a Slow-Channel

Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel

Myasthenic Syndrome, Congenital, Slow-Channel

Sccms

Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel

Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

Myasthenic Syndromes, Congenital, Slow Channel

Hyperekplexia 1

HKPX1

Exaggerated Startle Reaction

Sthe

Stiff-Baby Syndrome

Kok Disease

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Startle Disease

Hereditary Hyperexplexia 1

Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive

Hyperekplexia

Hereditary Hyperexplexia

Stiff-Person Syndrome

Tyrosinemia, Type Iii

Tyrosinemia Type Iii

4-Hydroxyphenylpyruvate Dioxygenase Deficiency

TYRSN3

4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Type 3

4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency

4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency

Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Due To Hpd Deficiency

Tyrosinemia 3

Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

MTDPS3

Dguok Deficiency

Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Dguok-Related Mitochondrial Dna Depletion Syndrome

Hepatocerebral Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome, Hepatocerebral Form

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency

Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type

Mitochondrial Dna Depletion Syndrome , Type 3

Cerebral Creatine Deficiency Syndrome 2

Guanidinoacetate Methyltransferase Deficiency

Gamt Deficiency

Creatine Deficiency Syndrome Due To Gamt Deficiency

Deficiency Of Guanidinoacetate Methyltransferase

CCDS2

Guanidinoacetate Methyltransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 2

Language Development Disorders

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Deficiency Of Methionine Adenosyltransferase

Glycine N-Methyltransferase Deficiency

Met

S-Adenosylhomocysteine Hydrolase Deficiency

Gnmt Deficiency

Mat Deficiency

Methionine Adenosyltransferase Deficiency

Methioninemia

Deficiency Of Acetyl-Coa Acetyltransferase

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency

Very Long Chain Acyl-Coa Dehydrogenase Deficiency

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Lcad Deficiency

Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Long Chain Acyl-Coa Dehydrogenase Deficiency

ACADVLD

Acadl Deficiency

Vlcadd

Long-Chain Acyl-Coa Dehydrogenase Deficiency

Acadvl

Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

Vlcad-C

Vlcad-H

Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

Acyl-Coa Dehydrogenase Long-Chain Deficiency

Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus MCCC2 MGD MGI:1925288
Canis familiaris MCCC2 VGNC VGNC:43071
Macaca mulatta MCCC2 VGNC VGNC:74677
Bos taurus MCCC2 VGNC VGNC:31299
Rattus norvegicus MCCC2 RGD RGD:1310279