DDHD2

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Description

The DDHD2 (DDHD domain containing 2) is a protein-coding gene located on chromosome 8.

DDHD2 is a phospholipase that preferentially hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. It also specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). This enzyme may be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures, as well as regulating the transport between the Golgi apparatus and plasma membrane.

DDHD2 is also known as SAMWD1, SPG54, iPLA(1)gamma, iPLA1A, iPLA1gamma, p125B.

Associated Diseases

• Autosomal recessive spastic paraplegia type 54
• Spastic paraplegia 54, autosomal recessive