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AGPAT2, cDNA Clone

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产品名称: AGPAT2, cDNA Clone
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简单介绍

AGPAT2, cDNA Clone


AGPAT2, cDNA Clone  的详细介绍
Product Name

AGPAT2, cDNA Clone

Full Product Name

AGPAT2 cDNA Clone

Product Gene Name

AGPAT2 cdna clone

[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
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Sequence
atggagctgt ggccgtgtct ggccgcggcg ctgctgttgc tgctgctgct ggtgcagctg agccgcgcgg ccgagttcta cgccaaggtc gccctgtact gcgcgctgtg cttcacggtg tccgccgtgg cctcgctcgt ctgcctgctg cgccacggcg gccggacggt ggagaacatg agcatcatcg gctggttcgt gcgaagcttc aagtactttt acgggctccg cttcgaggtg cgggacccgc gcaggctgca ggaggcccgt ccctgtgtca tcgtctccaa ccaccagagc atcctggaca tgatgggcct catggaggtc cttccggagc gctgcgtgca gatcgccaag cgggagctgc tcttcctggg gcccgtgggc ctcatcatgt acctcggggg cgtcttcttc atcaaccggc agcgctctag cactgccatg acagtgatgg ccgacctggg cgagcgcatg gtcagggaga acgtgcccat cgtccccgtg gtgtactctt ccttctcctc cttctacaac accaagaaga agttcttcac ttcaggaaca gtcacagtgc aggtgctgga agccatcccc accagcggcc tcactgcggc ggacgtccct gcgctcgtgg acacctgcca ccgggccatg aggaccacct tcctccacat ctccaagacc ccccaggaga acggggccac tgcggggtct ggcgtgcagc cggcccagta g
OMIM
603100
Vector
Please Inquire
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of AGPAT2 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for AGPAT2. It may not necessarily be applicable to this product.
NCBI GI #
37588952
NCBI GeneID
10555
NCBI Accession #
BC004529 [Other Products]
UniProt Secondary Accession #
O00516; O15106; Q5VUD3; Q5VUD4; Q9BSV7; Q9BWR7[Other Products]
UniProt Related Accession #
O15120[Other Products]
Molecular Weight
27,279 Da
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NCBI Official Full Name
Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta), mRNA
NCBI Official Synonym Full Names
1-acylglycerol-3-phosphate O-acyltransferase 2
NCBI Official Symbol
AGPAT2  [Similar Products]
NCBI Official Synonym Symbols
BSCL; BSCL1; LPAAB; 1-AGPAT2; LPAAT-beta
  [Similar Products]
NCBI Protein Information
1-acyl-sn-glycerol-3-phosphate acyltransferase beta
UniProt Protein Name
1-acyl-sn-glycerol-3-phosphate acyltransferase beta
UniProt Synonym Protein Names
1-acylglycerol-3-phosphate O-acyltransferase 2; 1-AGP acyltransferase 2; 1-AGPAT 2; Lysophosphatidic acid acyltransferase beta; LPAAT-beta
Protein Family
1-acyl-sn-glycerol-3-phosphate acyltransferase
UniProt Gene Name
AGPAT2  [Similar Products]
UniProt Synonym Gene Names
1-AGP acyltransferase 2; 1-AGPAT 2; LPAAT-beta  [Similar Products]
UniProt Entry Name
PLCB_HUMAN
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NCBI Summary for AGPAT2
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]
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UniProt Comments for AGPAT2
AGPAT2: Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Defects in AGPAT2 are the cause of congenital generalized lipodystrophy type 1 (CGL1); also known as Berardinelli-Seip congenital lipodystrophy type 1 (BSCL1) or Berardinelli-Seip syndrome. CGL1 is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transferase; EC 2.3.1.51; Membrane protein, multi-pass; Lipid Metabolism - glycerolipid; Lipid Metabolism - ether lipid; Membrane protein, integral; Lipid Metabolism - glycerophospholipid

Chromosomal Location of Human Ortholog: 9q34.3

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane

Molecular Function: 1-acylglycerol-3-phosphate O-acyltransferase activity

Biological Process: phosphatidic acid biosynthetic process; positive regulation of cytokine and chemokine mediated signaling pathway; positive regulation of cytokine production; triacylglycerol biosynthetic process

Disease: Lipodystrophy, Congenital Generalized, Type 1
Research Articles on AGPAT2
1. A changes serine in the acyltransferase NHX4D motif of AGPAT2, and intronic c.493-1G>C mutation destroy a splicing site that leads to exon 4 skipping and deletion of whole AGPAT2 substrate binding domain.">Data show that missense mutation c.299G>A changes serine in the acyltransferase NHX4D motif of AGPAT2, and intronic c.493-1G>C mutation destroy a splicing site that leads to exon 4 skipping and deletion of whole AGPAT2 substrate binding domain.
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Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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