| 1-acylglycerol-3-phosphate O-acyltransferase 2 | OKDB#: 5852 |
| Symbols: | AGPAT2 | Species: | human | ||
| Synonyms: | BSCL, BSCL1, LPAAB, 1-AGPAT2, LPAAT-beta | Locus: | 9q34.3 in Homo sapiens |
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| General Comment | NCBI Summary: 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] | ||||
| General function | Enzyme | ||||
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| Ovarian localization | Granulosa | ||||
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| Phenotypes |
PCO (polycystic ovarian syndrome) |
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Sept. 13, 2020, 10:49 a.m. | by: |
system email:
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| last update: | Sept. 13, 2020, 10:50 a.m. | by: | hsueh email: |
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