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Gene : AGPAT2 Homo sapiens

Name  ? 1-acylglycerol-3-phosphate O-acyltransferase 2 Cytological Location  9q34.3
Brief Description  1-acylglycerol-3-phosphate O-acyltransferase 2
description  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 (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:325,
  • LPAAT-beta,
  • OTTHUMG00000020936,
  • NM_006412,
  • AF000237,
  • lysophosphatidic acid acyltransferase-beta,
  • 1-AGPAT2,
  • BSCL1,
  • BSCL,
  • AGPAT2,
  • Berardinelli-Seip congenital lipodystrophy,
  • uc004cii.2,
  • BSCL,
  • LPAAB,
  • 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta),
  • LPAAT-beta
  • identifiers:
  • 10555,
  • ENSG00000169692,
  • AGPAT2

Genome feature

Region: gene ? Length: 14317  
Location: 9:136673143-136687459 reverse strand Cyto location: 9q34.3


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Disease

1 Diseases

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81 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results