Entity Details

Primary name DDHD1
Entity type gene
Source Source Link

Details

PrimaryID80821
RefseqGeneNG_042832
SymbolDDHD1
NameDDHD domain containing 1
Chromosome14
Location14q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDDHD1_HUMAN

GO terms

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GOName
GO:0004620 phospholipase activity
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006654 phosphatidic acid biosynthetic process
GO:0016042 lipid catabolic process
GO:0046872 metal ion binding
GO:0090141 positive regulation of mitochondrial fission

Diseases

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Disease IDSourceNameDescription
609340 OMIMSpastic paraplegia 28, autosomal recessive (SPG28)A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment. The disease is caused by variants affecting the gene represented in this entry.