NP_001153619.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
97,729 Da
NCBI Official Full Name
phospholipase DDHD1 isoform b
NCBI Official Synonym Full Names
DDHD domain containing 1
NCBI Protein Information
phospholipase DDHD1
UniProt Protein Name
Phospholipase DDHD1
UniProt Synonym Protein Names
DDHD domain-containing protein 1; Phosphatidic acid-preferring phospholipase A1 homolog; PA-PLA1
UniProt Synonym Gene Names
NCBI Summary for DDHD1
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]
UniProt Comments for DDHD1
DDHD1: Probable phospholipase that hydrolyzes phosphatidic acid. The different isoforms may change the substrate specificity. Belongs to the PA-PLA1 family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.1.1.-; Phospholipase
Chromosomal Location of Human Ortholog: 14q22.1
Cellular Component: cytoplasm; cytosol
Molecular Function: metal ion binding; phospholipase activity
Biological Process: lipid catabolic process; phosphatidic acid biosynthetic process; positive regulation of mitochondrial fission
Disease: Spastic Paraplegia 28, Autosomal Recessive
Research Articles on DDHD1
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Organs/Tissues associated with DDHD1 elisa kit
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