Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Invitrogen
This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated.
Immunogen sequence: NTAMMREAAR KIEERHFSNH ATHVEFLPVE WRSKLTLDGD TVDSITPDKV RGLRDMLNSS AMDIMYYTSP LYRDELVKGL QQELNRLYSL FCSRNPD
Highest antigen sequence identity to the following orthologs: Mouse - 98%, Rat - 98%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DDHD domain-containing protein 1; PA-PLA1; Phosphatidic acid-preferring phospholipase A1 homolog; phosphatidic acid-preferring phospholipase A1-like protein; Phospholipase DDHD1; Phospholipid sn-1 acylhydrolase; spastic paraplegia 28 (autosomal recessive)
Gene Aliases: DDHD1; KIAA1705; PA-PLA1; PAPLA1; SPG28
UniProt ID: (Human) Q8NEL9
Entrez Gene ID: (Human) 80821
Molecular Function:
hydrolase
lipase
phospholipase
metabolite interconversion enzyme
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