DDHD2( Human )

Entrez Gene 23259 Entrez Gene 23259
DDHD domain containing 2

Alias

SAMWD1|SPG54|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. [provided by RefSeq, Dec 2013].

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