| AGPAT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | AGPAT2 , 1-BSCL, BSCL1, LPAAB, LPAAT-beta, 1-acylglycerol-3-phosphate O-acyltransferase 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603100 MGI: 1914762 HomoloGene: 4678 GeneCards: AGPAT2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene. [5] [6] [7]
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]
HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1. While it can carry out the same function as HSD3B2, it localizes primarily to different tissues, such as the placenta and nonsteroidogenic tissues. Its requirement for the production of progesterone by the placenta, which has a vital role in pregnancy, may be one reason why no disease based on mutations in this gene has been identified to date, besides prostate cancer.
Liver X receptor beta (LXR-β) is a member of the nuclear receptor family of transcription factors. LXR-β is encoded by the NR1H2 gene.
Lysophosphatidic acid receptor 2 also known as LPA2 is a protein that in humans is encoded by the LPAR2 gene. LPA2 is a G protein-coupled receptor that binds the lipid signaling molecule lysophosphatidic acid (LPA).
Lysophosphatidic acid receptor 6, also known as LPA6, P2RY5 and GPR87, is a protein that in humans is encoded by the LPAR6 gene. LPA6 is a G protein-coupled receptor that binds the lipid signaling molecule lysophosphatidic acid (LPA).
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.
17β-Hydroxysteroid dehydrogenase 2 (17β-HSD2) is an enzyme of the 17β-hydroxysteroid dehydrogenase (17β-HSD) family that in humans is encoded by the HSD17B2 gene.
Seipin is a protein that in humans is encoded by the BSCL2 gene.
1-acyl-sn-glycerol-3-phosphate acyltransferase alpha is an enzyme that in humans is encoded by the AGPAT1 gene.
Acetylcholine receptor subunit beta is a protein that in humans is encoded by the CHRNB1 gene.
1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon is an enzyme that in humans is encoded by the AGPAT5 gene.
The human gene AGK encodes the enzyme mitochondrial acylglycerol kinase.
1-acylglycerol-3-phosphate O-acyltransferase ABHD5, also known as comparative gene identification-58 (CGI-58), is an enzyme that in humans is encoded by the ABHD5 gene.
1-acyl-sn-glycerol-3-phosphate acyltransferase gamma is an enzyme that in humans is encoded by the AGPAT3 gene.
Patatin-like phospholipase domain-containing protein 3 (PNPLA3) also known as adiponutrin (ADPN), acylglycerol O-acyltransferase or calcium-independent phospholipase A2-epsilon (iPLA2-epsilon) is an enzyme that in humans is encoded by the PNPLA3 gene.
Glycerol-3-phosphate acyltransferase 3 (GPAT-3) is an enzyme that in humans is encoded by the AGPAT9 gene. GPAT-3 is also known as:
Thyroid stimulating hormone, beta also known as TSHB is a protein which in humans is encoded by the TSHB gene.
Congenital generalized lipodystrophy is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide.
Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene.
Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum (ER) that concentrates at junctions with cytoplasmic lipid droplets (LDs). Alternatively, seipin can be referred to as Berardinelli–Seip congenital lipodystrophy type 2 protein (BSCL2), and it is encoded by the corresponding gene of the same name, i.e. BSCL2. At protein level, seipin is expressed in cortical neurons in the frontal lobes, as well as motor neurons in the spinal cord. It is highly expressed in areas like the brain, testis and adipose tissue. Seipin's function is still unclear but it has been localized close to lipid droplets, and cells knocked out in seipin which have anomalous droplets. Hence, recent evidence suggests that seipin plays a crucial role in lipid droplet biogenesis.
Glycerol-3-phosphate acyltransferase 4 is a glycerol-3-phosphate acyltransferase that in humans is encoded by the GPAT4 gene.
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