AGPAT2

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AGPAT2
Identifiers
AliasesAGPAT2, 1-BSCL, BSCL1, LPAAB, LPAAT-beta, 1-acylglycerol-3-phosphate O-acyltransferase 2
External IDsOMIM: 603100 MGI: 1914762 HomoloGene: 4678 GeneCards: AGPAT2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006412
NM_001012727

NM_026212

RefSeq (protein)

NP_001012745
NP_006403

NP_080488

Location (UCSC)Chr 9: 136.67 – 136.69 MbChr 2: 26.48 – 26.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene.[5][6][7]

Function

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169692 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026922 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Eberhardt C, Gray PW, Tjoelker LW (Aug 1997). "Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3". The Journal of Biological Chemistry. 272 (32): 20299–305. doi:10.1074/jbc.272.32.20299. PMID 9242711.
  6. ^ West J, Tompkins CK, Balantac N, Nudelman E, Meengs B, White T, Bursten S, Coleman J, Kumar A, Singer JW, Leung DW (Jun 1997). "Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells". DNA and Cell Biology. 16 (6): 691–701. doi:10.1089/dna.1997.16.691. PMID 9212163.
  7. ^ a b "Entrez Gene: AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)".

External links

Further reading