Catalog No.
YHB45401
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Gln212-Asn363
Predicted molecular weight
19.59 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
O94830
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
KIAA0725, DDHD domain-containing protein 2, DDHD2, Phospholipase DDHD2, KIAA0725p, SAMWD1, SAM, WWE and DDHD domain-containing protein 1
Hereditary Spastic Paraplegia Overview. PMID: 20301682
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. PMID: 23897027
Protein purification and cloning of diacylglycerol lipase from rat brain. PMID: 26790472
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis. PMID: 30038238
Enzymatic characterization of recombinant rat DDHD2: a soluble diacylglycerol lipase. PMID: 27198176
DDHD1, but Not DDHD2, Suppresses Neurite Outgrowth in SH-SY5Y and PC12 Cells by Regulating Protein Transport From Recycling Endosomes. PMID: 32850804
The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase. PMID: 25267624
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets. PMID: 29278326
Clinical manifestations associated with the domain-containing protein 2 (DDHD2) gene mutation in an Iranian family with Spastic Paraplegia 54. PMID: 36977391
Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54. PMID: 36090575
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). PMID: 23486545
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. PMID: 23176823
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. PMID: 24337409
[Autosomal recessive spinocerebellar ataxias in Japan]. PMID: 27181749
The intracellular phospholipase A1 protein family. PMID: 25436551
miR-503 represses human cell proliferation and directly targets the oncogene DDHD2 by non-canonical target pairing. PMID: 25653011
Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54). PMID: 26113134
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants. PMID: 31302745
Circular RNA circRUNX1 promotes papillary thyroid cancer progression and metastasis by sponging MiR-296-3p and regulating DDHD2 expression. PMID: 33479208
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism. PMID: 32747698
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. PMID: 25417924
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum. PMID: 24517879
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. PMID: 25178427
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family. PMID: 33246910
Quantitative proteomic analysis in symptomatic and asymptomatic apical periodontitis. PMID: 33480079
Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk. PMID: 33462483
Characteristics and Prognosis of 8p11.23-Amplified Squamous Lung Carcinomas. PMID: 36902501
An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models. PMID: 30838228
Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast. PMID: 27402848
Transforming properties of 8p11-12 amplified genes in human breast cancer. PMID: 20940404
The "broken wishbone" splenial sign: A diagnostic hallmark for SPG54 spastic ataxia. PMID: 31271950
Characterization of the recurrent 8p11-12 amplicon identifies PPAPDC1B, a phosphatase protein, as a new therapeutic target in breast cancer. PMID: 18757432
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. PMID: 27679996
An mRNA Gene Expression-Based Signature to Identify FGFR1-Amplified Estrogen Receptor-Positive Breast Tumors. PMID: 27993329
Cis-effects on gene expression in the human prenatal brain associated with genetic risk for neuropsychiatric disorders. PMID: 32366953
A pan-cancer study of copy number gain and up-regulation in human oncogenes. PMID: 30243646
Mendelian Randomization Study Using Dopaminergic Neuron-Specific eQTL Identifies Novel Risk Genes for Schizophrenia. PMID: 36517655
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. PMID: 24833714
Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. PMID: 22922100
A lysophospholipid acyltransferase antagonist, CI-976, creates novel membrane tubules marked by intracellular phospholipase A1 KIAA0725p. PMID: 23378048
Co-amplified genes at 8p12 and 11q13 in breast tumors cooperate with two major pathways in oncogenesis. PMID: 19330026
For research use only. Not for human or drug use.
