MMAB - metabolism of cobalamin associated B Gene

中文名称：钴胺素相关 B 的代谢

种属: Homo sapiens

同用名: ATR; cob; cblB; CFAP23

基因 ID: 326625 | 基因类型: protein coding

关于 MMAB

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,553,715-109,573,504 (from NCBI)

This gene has 10 transcripts (splice variants), 201 orthologues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 6.8), adrenal (RPKM 5.6) and 25 other tissues.

功能概要

该基因编码的蛋白质可催化维生素 B (12) 转化为腺苷钴胺素 (AdoCbl) 的最后一步，AdoCbl 是一种含维生素 B12 的甲基丙二酰辅酶 A 变位酶辅酶。该基因的突变是与 cblB 互补组相关的维生素 B12 依赖性甲基丙二酸尿症的原因。已经发现选择性剪接的转录本变体。[RefSeq 提供，2011 年 4 月]

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

MMAB 基因产物(1)

mRNA	Protein	Name
NM_052845.4	NP_443077.1	corrinoid adenosyltransferase MMAB 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 cobalamin binding	IDA IDA: 通过直接分析推断	28497574	GOA
enables corrinoid adenosyltransferase activity	EXP EXP: 通过实验结果推断	15913339	GOA
enables corrinoid adenosyltransferase activity	IDA IDA: 通过直接分析推断	12514191	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25910212	GOA
enables transferase activity, transferring alkyl or aryl (other than methyl) groups	IDA IDA: 通过直接分析推断	12514191	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cobalamin metabolic process	IDA IDA: 通过直接分析推断	12514191	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

MMAB 蛋白结构

Cob_adeno_trans

0
100
200
250 a.a.

蛋白主名

其他名称

corrinoid adenosyltransferase MMAB

corrinoid adenosyltransferase

ATP:co(I)rrinoid adenosyltransferase MMAB

MMAB 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	MMAB	Q96EY8	NEK7	Homo sapiens	Q8TDX7	Y2H Array	32814053
种属内	MMAB	Q96EY8	NEK7	Homo sapiens	Q8TDX7	Y2H Pooling	32814053
种属内	MMAB	Q96EY8	NEK7	Homo sapiens	Q8TDX7	Validated Y2H	32814053
种属内	MMAB	Q96EY8	CBY2	Homo sapiens	Q8NA61-2	Y2H Bait-Prey Pool	25910212
种属内	MMAB	Q96EY8	CBY2	Homo sapiens	Q8NA61-2	Y2H Array	25910212
种属内	MMAB	Q96EY8	CBY2	Homo sapiens	Q8NA61-2	Validated Y2H	25910212
种属内	MMAB	Q96EY8	DBT	Homo sapiens	P11182	Anti Tag CoIP	33961781

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

Methylmalonic Aciduria, Cblb Type

Methylmalonic Aciduria Cblb Type	Methylmalonic Acidemia Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type	Methylmalonic Acidemia, Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type	Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb	Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
Methylmalonic Aciduria Type Cblb	MMAB
Methylmalonic Aciduria Type B	Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B	Aciduria, Methylmalonic, Cblb Type
Methylmalonic Acidemia	Methylmalonic Aciduria

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

Isolated Methylmalonic Acidemia

Isolated Methylmalonic Aciduria

Methylmalonic Acidemia

Combined Malonic And Methylmalonic Aciduria

CMAMMA	Combined Malonic And Methylmalonic Acidemia
Aciduria, Combined Malonic And Methylmalonic

Organic Acidemia

Organic Aciduria	Disorder Of Organic Acid Metabolism
Organic Acid Metabolism Disorder	Organic Acidemias
Inherited Organic Acidemia	Organic Acidurias
Aciduria Organic

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

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Vitamin B12 Deficiency

Cobalamin Deficiency	Hypocobalaminemia
Vitamin B 12 Deficiency	Cyanocobalamin Deficiency
Deficiency Of Vitamin B12

Vitamin Metabolic Disorder

Methylmalonic Aciduria And Homocystinuria, Cblc Type

MAHCC	Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic	Methylmalonic Aciduria And Homocystinuria Type Cblc
Cobalamin C Disease	Methylmalonic Acidemia With Homocystinuria Cblc
Methylmalonic Acidemia And Homocystinuria, Cblc Type	Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
Cobalamin C Deficiency	Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cblc Defect	Cobalamin C Defect
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc	Methylmalonic Aciduria With Homocystinuria, Type Cblc
Methylmalonic Acidemia And Homocystinuria Cblc Type	Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive
Aciduria, Methylmalonic, And Homocystinuria, Cblc Type	Methylmalonic Acidemia With Homocystinuria

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-RS08508	MMAB Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	MMAB	VGNC	VGNC:74796
Mus musculus	MMAB	MGD	MGI:1924947
Felis catus	MMAB	VGNC	VGNC:63532
Canis familiaris	MMAB	VGNC	VGNC:57126
Rattus norvegicus	MMAB	RGD	RGD:1596242
Bos taurus	MMAB	VGNC	VGNC:57127

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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

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）

MMAB - metabolism of cobalamin associated B Gene

关于 MMAB

功能概要

MMAB 基因产物(1)

MMAB 蛋白结构

MMAB 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

MMAB - metabolism of cobalamin associated B Gene

关于 MMAB

功能概要

MMAB 基因产物(1)

MMAB 蛋白结构

MMAB 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z