Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

1-acylglycerol-3-phosphate O-acyltransferase 2

The AGPAT2 gene encodes an enzyme that is located within the endoplasmic reticulum membrane. It plays a role in phospholipid biosynthesis. Mutations cause autosomal recessive generalized lipodystrophy characterized by absence of adipose tissue and severe insulin resistance. The disorder is apparent from birth or early infancy. Other clinical features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Generalized lipodystrophy
Congenital generalized lipodystrophy type 2
Generalized lipodystrophy type 1



Agarwal AK et al. (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.


Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.


Gomes KB et al. (2004) Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.


Lu B et al. (2005) Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPARalpha in murine heart.


West J et al. (1997) Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells.


Eberhardt C et al. (1997) Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3.


Aguado B et al. (1998) Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex.


NCBI article

NCBI 10555 [^]

OMIM.ORG article

Omim 603100 [^]

Orphanet article

Orphanet ID 119525 [^]

Wikipedia article

Wikipedia EN (AGPAT2) [^]
Update: April 29, 2019