Phosphatidylethanolamine N-Methyltransferase

Alternative Names

  • PEMT
  • PEMPT
  • PEMT1
  • PEMT2
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OMIM Number

602391

NCBI Gene ID

10400

Uniprot ID

Q9UBM1

Length

86,427 bases

No. of Exons

13

No. of isoforms

3

Protein Name

Phosphatidylethanolamine N-methyltransferase

Molecular Mass

22134 Da

Amino Acid Count

199

Genomic Location

chr17:17,505,560-17,591,986

Gene Map Locus
17p11.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_148172.3:c.321-4231C>TUnited Arab EmiratesNC_000017.11:g.17516885G>AType 2 Diabetes Mellitus; ObesityNM_148172.3:c.321-4231C>T; NP_680477.1:p.?4646404
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