DDHD2, Official Symbol DDHD2provided by HGNC Official Full Name DDHD domain containing 2provided by HGNC Primary source HGNC:HGNC:29106 See related Ensembl:ENSG00000085788 MIM:615003; AllianceGenome:HGNC:29106 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SPG54; p125B; SAMWD1; iPLA1A; iPLA1gamma; iPLA(1)gamma Summary 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] Expression Ubiquitous expression in brain (RPKM 15.7), fat (RPKM 12.4) and 25 other tissues See more Orthologs mouse all