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Official Full Name: DDHD domain containing 2
Also known as: SPG54; p125B; SAMWD1; iPLA1A; iPLA1gamma; iPLA(1)gamma
This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants.