PEMT - phosphatidylethanolamine N-methyltransferase Gene

Homo sapiens

Also known as PLMT; PNMT; PEAMT; PEMPT; PEMT2

Gene ID: 10400 | Gene type: protein coding

About PEMT

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,505,563-17,592,142 (from NCBI)

This gene has 13 transcripts (splice variants) and 189 orthologues. Broad expression in liver (RPKM 29.5), fat (RPKM 10.2) and 25 other tissues.

Summary

Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an Enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]

PEMT Products(5)

mRNA	Protein	Name
NM_001267551.2	NP_001254480.1	phosphatidylethanolamine N-methyltransferase isoform 4
NM_001267552.2	NP_001254481.1	phosphatidylethanolamine N-methyltransferase isoform 3
NM_007169.3	NP_009100.2	phosphatidylethanolamine N-methyltransferase isoform 2
NM_148172.3	NP_680477.1	phosphatidylethanolamine N-methyltransferase isoform 1
NM_148173.2	NP_680478.1	phosphatidylethanolamine N-methyltransferase isoform 2

PEMT Protein Structure

PEMT

0
100
199 a.a.

Protein Preferred Names

Protein Names

phosphatidylethanolamine N-methyltransferase

phospholipid methyltransferase

Related Diseases

Diseases

Alias

Choline Deficiency Disease

Choline Deficiency

Non-Alcoholic Fatty Liver Disease

Fatty Liver	Non-Alcoholic Fatty Liver
Nafld	Nonalcoholic Fatty Liver Disease
Nonalcoholic Steatohepatitis	Steatosis
Nafl	Nash
Non-Alcoholic Steatohepatitis	Susceptibility To Nonalcoholic Fatty Liver Disease
Steatohepatitis	Fatty Degeneration
Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis	Nafld Without Nash
Nafld Without Mention Of Nash

Whiplash

Froelich Syndrome

Froehlich'S Syndrome	Froelich'S Syndrome
Adiposogenital Syndrome	Babinski-Froelich Syndrome
Froehlich Syndrome

Glycine N-Methyltransferase Deficiency

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

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

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10325	PEMT Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PEMT	VGNC	VGNC:44418
Mus musculus	PEMT	MGD	MGI:104535
Felis catus	PEMT	VGNC	VGNC:68785
Rattus norvegicus	PEMT	RGD	RGD:3297
Macaca mulatta	PEMT	VGNC	VGNC:75940
Bos taurus	PEMT	VGNC	VGNC:32745
Others	PEMT	NCBI