Gene Symbol | DDHD2 |
Entrez Gene ID | 23259 |
Full Name | DDHD domain containing 2 |
Synonyms | SAMWD1,SPG54,iPLA(1)gamma |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 54, autosomal recessive, 615033 (3) |