Entity Details

Primary name DDHD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NEL9
EntryNameDDHD1_HUMAN
FullNamePhospholipase DDHD1
TaxID9606
Evidenceevidence at protein level
Length900
SequenceStatuscomplete
DateCreated2003-10-24
DateModified2021-06-02

Ontological Relatives

GenesDDHD1

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

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR004177 DDHD domainDomainDomain

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.