AGPAT3 Chromosome 21

1-acylglycerol-3-phosphate O-acyltransferase 3

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"1-acylglycerol-3-phosphate O-acyltransferases|Lysophospholipid acyltransferases"

Locus Type

gene with protein product

Location

21q22.3

Ensembl

ENSG00000160216

Associated Conditions (1)

Intellectual disability

Key Variants

RS780787175

Pathogenic

Intellectual disability, Intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS780787175	Health Risk	Pathogenic	Intellectual disability, Intellectual disability