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Gene : DDHD1 Homo sapiens

Name  ? DDHD domain containing 1 Cytological Location  14q22.1
Brief Description  DDHD domain containing 1
Description  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]
  • synonyms:
  • SPG28,
  • OTTHUMG00000140305,
  • KIAA1705,
  • phosphatidic acid-preferring phospholipase A1,
  • PA-PLA1,
  • SPG28,
  • NM_001160147,
  • spastic paraplegia 28 (autosomal recessive),
  • HGNC:19714,
  • AB051492,
  • DDHD1,
  • PA-PLA1,
  • uc001xah.4,
  • PAPLA1
  • identifiers:
  • 80821,
  • ENSG00000100523,
  • DDHD1

Genome feature

Region: gene ? Length: 116569  
Location: 14:53036755-53153323 reverse strand Cyto location: 14q22.1


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results