BHMT - betaine--homocysteine S-methyltransferase Gene

中文名称：甜菜碱--同型半胱氨酸 S-甲基转移酶

种属: Homo sapiens

同用名: BHMT1; HEL-S-61p

基因 ID: 635 | 基因类型: protein coding

关于 BHMT

Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:79,111,809-79,132,288 (from NCBI)

This gene has 6 transcripts (splice variants), 304 orthologues and 4 paralogues. Biased expression in kidney (RPKM 481.8) and liver (RPKM 260.9).

功能概要

该基因编码一种胞质酶，可催化甜菜碱和同型半胱氨酸分别转化为二甲基甘氨酸和甲硫氨酸。该基因的缺陷可能导致高同型 (e) 贫血症，但尚未观察到这种缺陷。[RefSeq 提供，2008 年 7 月]

This gene encodes a cytosolic Enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]

BHMT 基因产物(1)

mRNA	Protein	Name
NM_001713.3	NP_001704.2	betaine--homocysteine S-methyltransferase 1

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 betaine-homocysteine S-methyltransferase activity	IDA IDA: 通过直接分析推断	8798461	GOA
enables zinc ion binding	IDA IDA: 通过直接分析推断	12220488	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in 'de novo' L-methionine biosynthetic process	IMP IMP: 通过突变表型推断	10529246	GOA
involved in L-methionine salvage	IDA IDA: 通过直接分析推断	18230605	GOA
NOT involved in S-adenosylmethionine metabolic process	IDA IDA: 通过直接分析推断	18230605	GOA
involved in amino-acid betaine metabolic process	IDA IDA: 通过直接分析推断	18230605	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in extracellular exosome	IDA IDA: 通过直接分析推断	21082674	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

BHMT 蛋白结构

S-methyl_trans

0
100
200
300
406 a.a.

蛋白主名

其他名称

betaine--homocysteine S-methyltransferase 1

epididymis secretory sperm binding protein Li 61p

BHMT 抗体

目录号	产品名	应用	反应物种
HY-P82804	BHMT Antibody (YA2549)	WB, IHC-P, IP	Human

关联疾病

疾病名称

别名

Hyperhomocysteinemia

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Homocystinuria

Cystathionine Beta Synthase Deficiency	Homocysteinemia
Cbs Deficiency	Cystathionine Synthase Deficiency
Cystathionine Beta-Synthase Deficiency Disease

Choline Deficiency Disease

Choline Deficiency

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

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

Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY	Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency
Hypermethioninemia Due To Gnmt Deficiency	Hypermethioninemia
Hepatic Methionine Adenosyltransferase Deficiency

Mast Syndrome

SPG21	Spastic Paraplegia 21, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia Type 21	Autosomal Recessive Spastic Paraplegia 21
Hereditary Spastic Paraplegia 21

Amino Acid Metabolic Disorder

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

Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3	Methylmalonic Acidemia With Homocystinuria, Type Cblx
MAHCX	Intellectual Developmental Disorder, X-Linked 3
Xlid3	Mrx3
Methylmalonic Acidemia And Homocysteinemia Cblx Type	Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
Methylmalonic Aciduria With Homocystinuria, Type Cblx	Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Methylmalonic Aciduria And Homocysteinemia, Cblx Type	Methylmalonic Aciduria And Homocysteinemia , Cblx Type
Mental Retardation, X-Linked, Type 3

Vitamin B12 Deficiency

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

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Orofacial Cleft

Cleft, Orofacial

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-RS01495	BHMT Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS01496	BHMT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	BHMT	RGD	RGD:621496
Macaca mulatta	BHMT	VGNC	VGNC:70247
Canis familiaris	BHMT	VGNC	VGNC:38447
Mus musculus	BHMT	MGD	MGI:1339972
Bos taurus	BHMT	VGNC	VGNC:26488

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）

BHMT - betaine--homocysteine S-methyltransferase Gene

关于 BHMT

功能概要

BHMT 基因产物(1)

BHMT 蛋白结构

BHMT 抗体

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.

BHMT - betaine--homocysteine S-methyltransferase Gene

关于 BHMT

功能概要

BHMT 基因产物(1)

BHMT 蛋白结构

BHMT 抗体

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