1-acyl-''sn''-glycerol-3-phosphate acyltransferase beta is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''AGPAT2''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
This gene encodes a member of the 1-acylglycerol-3-phosphate ''O''-acyltransferase family. The protein is located within the
endoplasmic reticulum
The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for ...
membrane and converts
lysophosphatidic acid
A lysophosphatidic acid (LPA) is a phospholipid derivative that can act as a signaling molecule.
Function
LPA acts as a potent mitogen due to its activation of three high-affinity G-protein-coupled receptors called LPAR1, LPAR2, and LPAR3 (a ...
to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with
congenital generalized lipodystrophy
Congenital generalized lipodystrophy (also known as Berardinelli–Seip 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 disor ...
, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
References
External links
*
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-9-stub