Product Datasheet
DDHD1 Antibody
Catalog Number: 47033
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:Q8NEL9
NCBI Gene ID:80821
Gene Accssion:NP_001153620
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Synthetic peptide of human DDHD1
- appl_detail:
- Western blotting:1:200-1000
Immunofluorescence:1: 20-100
- other_names:
- SPG28; PAPLA1; PA-PLA1
- Purification:
- Antigen affinity purification
- Specificity:
- The antibody detects endogenous levels of total DDHD1 protein.
- Background:
- 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.
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