DDHD1 Chromosome 14
DDHD domain containing 1
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What This Gene Does
This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Associated Conditions (6)
Hereditary spastic paraplegia
Hereditary spastic paraplegia 28
Inborn genetic diseases
DDHD1-related disorder
Clear cell carcinoma of kidney
Cervical cancer
Key Variants
RS1382953265
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
Health Risk
RS144016130
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
RS148836546
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 28, Inborn genetic diseases, Hereditary spastic paraplegia 28
Health Risk
RS202164262
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Hereditary spastic paraplegia 28
Health Risk
RS2139724476
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
Health Risk
RS367621941
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Clear cell carcinoma of kidney
Health Risk
RS374202355
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
Health Risk
RS377049663
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Hereditary spastic paraplegia 28
Health Risk
RS542200589
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
Health Risk
RS55671452
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
Health Risk
RS568294049
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
RS748714439
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1382953265 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 28, Hereditary spastic paraplegia |
| RS144016130 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Inborn genetic diseases |
| RS148836546 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 28, Inborn genetic diseases, Hereditary spastic paraplegia 28 |
| RS202164262 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Hereditary spastic paraplegia 28 |
| RS2139724476 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 28, Hereditary spastic paraplegia |
| RS367621941 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Clear cell carcinoma of kidney |
| RS374202355 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS377049663 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Hereditary spastic paraplegia 28 |
| RS542200589 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 28, Hereditary spastic paraplegia |
| RS55671452 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS568294049 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Inborn genetic diseases |
| RS748714439 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 28, Hereditary spastic paraplegia |
| RS147133475 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139861782 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2503093700 | Health Risk | Likely pathogenic | — |
| RS1446744416 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Cervical cancer, Hereditary spastic paraplegia 28 |
| RS1886604612 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS1886606157 | Health Risk | Pathogenic | — |
| RS1887484564 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS1891509468 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139675094 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139806225 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139850050 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139870889 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139938826 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139941138 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2503054402 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2503144489 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2503565184 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2503574858 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS748385953 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS776191400 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS781505420 | Health Risk | Pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS760208786 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 28, Hereditary spastic paraplegia, Hereditary spastic paraplegia 28 |