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DDHD2

Official Full Name
DDHD domain containing 2
Organism
Homo sapiens
GeneID
23259
Background
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]
Synonyms
SPG54; p125B; SAMWD1; iPLA1A; iPLA1gamma; iPLA(1)gamma;

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