MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of type 2 diabetes in Han Chinese.

The GG genotype of the PEMT G774C polymorphism, higher levels of serum homocysteine and lower levels of serum betaine are associated with an increased risk of microangiopathy in patients with diabetes.

PEMT is a functional single nucleotide polymorphism (rs7946) in PEMT with sporadic Alzheimer's disease risk in a Han Chinese population.

the PEMT -774G>C and CHDH (show CHDH ELISA Kits) +432G>T polymorphisms were associated with sperm concentration. This finding suggests a possible influence of these genes on sperm quality

genetic association studies on endometriosis in a population of women in Poland: Data suggest interaction between an SNP in PEMT (rs4244593) and an SNP in MTHFR (show MTHFR ELISA Kits) (Ala222Val; rs1801133) in infertile women with some indication of endometriosis.

Results showed that Pemt deficiency and high-fat diet in mouse model demonstrated the phenotypes resemble to the clinical features of the patients with lean non-alcoholic steatohepatitis.

propose that cold-induced hypothermia in HF-fed Pemt(-/-) mice is linked to plasma hypoglycemia due to compromised hepatic glucose production.

Lack of PEMT in mice does not promote fatty acid oxidation in skeletal muscle.

Decreased lipogenesis in white adipose tissue may contribute to the resistance to diet-induced obesity in Pemt(-/-) mice.

these findings indicate that the inhibition of Pemt activity ameliorates the ER stress associated with diabetic nephropathy in a model of type 1 diabetes

This study evaluated the role of the role of phosphatidylethanolamine N-methyltransferase in hepatic carbohydrate metabolism in chow-fed mice.

Pemt deficiency results in attenuated secretion of very low-density lipoproteins and homocysteine as well as in increased susceptibility to nonalcoholic liver disease.

PEMT Antigen Profile

Antigen 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.