BHMT - betaine--homocysteine S-methyltransferase Gene

Homo sapiens

Also known as BHMT1; HEL-S-61p

Gene ID: 635 | Gene type: protein coding

About 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).

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables betaine-homocysteine S-methyltransferase activity	IDA IDA: Inferred from direct assay	8798461	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	12220488	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in 'de novo' L-methionine biosynthetic process	IMP IMP: Inferred from mutant phenotype	10529246	GOA
involved in L-methionine salvage	IDA IDA: Inferred from direct assay	18230605	GOA
NOT involved in S-adenosylmethionine metabolic process	IDA IDA: Inferred from direct assay	18230605	GOA
involved in amino-acid betaine metabolic process	IDA IDA: Inferred from direct assay	18230605	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular exosome	IDA IDA: Inferred from direct assay	21082674	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BHMT Protein Structure

S-methyl_trans

0
100
200
300
406 a.a.

Protein Preferred Names

Protein Names

betaine--homocysteine S-methyltransferase 1

epididymis secretory sperm binding protein Li 61p

BHMT Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82804	BHMT Antibody (YA2549)	WB, IHC-P, IP	Human

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01495	BHMT Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01496	BHMT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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