Gene: DDHD2
Alternate names for this Gene: SAMWD1|SPG54|iPLA(1)gamma
Gene 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.
Gene is located in Chromosome: 8
Location in Chromosome : 8p11.23
Description of this Gene: DDHD domain containing 2
Type of Gene: protein-coding
rs375168720 in
DDHD2 gene and
Epilepsy, Generalized
PMID 25417924 2014 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
PMID 24337409 2014 Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
PMID 23176823 2012 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
PMID 24517879 2014 Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
rs375168720 in
DDHD2 gene and
Obesity
PMID 25417924 2014 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
PMID 24517879 2014 Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
PMID 23176823 2012 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
PMID 24337409 2014 Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
rs373856119 in
DDHD2 gene and
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
PMID 23176823 2012 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
PMID 23486545 2013 Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).