DDHD1, DDHD domain containing 1

DDHD1, DDHD domain containing 1

• 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]

• Gene Synonyms (phospholipase DDHD1, phosphatidic acid-preferring phospholipase A1 homolog, phosphatidic acid-preferring phospholipase A1-like protein, spastic paraplegia 28 (autosomal recessive), PA-PLA1, PAPLA1, SPG28,)
• NCBI Gene ID: 80821
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8NEL9
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

DDHD domain containing 1 interacts with:

• angiomotin like 1
  cytidine and dCMP deaminase domain containing 1
  dynein light chain LC8-type 2
  egl-9 family hypoxia inducible factor 3

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.