Catalog No.
YHB27901
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Ser63-Ser156
Predicted molecular weight
22.80 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
O75665
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
OFD1, Protein 71-7A, Oral-facial-digital syndrome 1 protein, CXorf5
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa., PMID:40119724
SIRT2 inhibition attenuates myofibroblast transition through autophagy-mediated ciliogenesis in renal epithelial cells., PMID:39988243
Conservation of OFD1 Protein Motifs: Implications for Discovery of Novel Interactors and the OFD1 Function., PMID:39940934
A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa., PMID:39925483
Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases., PMID:39766900
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis., PMID:39180133
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1., PMID:39156004
Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene., PMID:38852111
Identification of deleterious variants in nine polycystic kidney disease affected families., PMID:38670396
A Specialized Centrosome-Proteasome Axis Mediates Proteostasis and Influences Cardiac Stress through Txlnb., PMID:38405715
Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin., PMID:38139355
X-linked neuronal migration disorders: Gender differences and insights for genetic screening., PMID:37574439
Single-cell proteo-genomic reveals a comprehensive map of centrosome-associated spliceosome components., PMID:37250316
Single-molecule localization microscopy reveals the ultrastructural constitution of distal appendages in expanded mammalian centrioles., PMID:36973278
An actin filament branching surveillance system regulates cell cycle progression, cytokinesis and primary ciliogenesis., PMID:36973243
Quantitative phosphoproteomic analysis reveals unique cAMP signaling pools emanating from AC2 and AC6 in human airway smooth muscle cells., PMID:36926196
Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome., PMID:36833254
Increased expression of CEP72 predicts poor prognosis in multiple myeloma., PMID:36782078
A novel non-sense variant in the OFD1 gene caused Joubert syndrome., PMID:36704348
Polycystic kidney disease associated with intracranial hypertension revealing a mutation of the OFD1 gene., PMID:36571587
Proteome balance in ciliopathies: the OFD1 protein example., PMID:36494254
The central scaffold protein CEP350 coordinates centriole length, stability, and maturation., PMID:36315013
The evolutionary conserved proteins CEP90, FOPNL, and OFD1 recruit centriolar distal appendage proteins to initiate their assembly., PMID:36070319
Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia., PMID:35847568
[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1]., PMID:35773765
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach., PMID:35764379
Abnormal accumulation of OFD1 in endometrial cancer with poor prognosis inhibits ciliogenesis., PMID:35720483
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome., PMID:35439611
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review., PMID:35398350
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions., PMID:35137044
OFD1: One gene, several disorders., PMID:35112477
Myosin VI regulates ciliogenesis by promoting the turnover of the centrosomal/satellite protein OFD1., PMID:34957672
Autophagy and Ciliogenesis., PMID:34414314
A ciliopathy complex builds distal appendages to initiate ciliogenesis., PMID:34241634
The role of OFD1 in selective autophagy., PMID:34027042
Carbohydrate sulfotransferase 3 (CHST3) overexpression promotes cartilage endplate-derived stem cells (CESCs) to regulate molecular mechanisms related to repair of intervertebral disc degeneration by rat nucleus pulposus., PMID:33993645
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation., PMID:33934390
The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle., PMID:33681704
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy., PMID:33368531
Motile cilia and airway disease., PMID:33279404
A non-canonical Hedgehog pathway initiates ciliogenesis and autophagy., PMID:33258871
The Relationship Between Human Papillomavirus, OFD1 and Primary Ciliogenesis in the Progression of Oropharyngeal Cancer: A Retrospective Cohort Study., PMID:33244255
A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation., PMID:32944789
OFD Type I syndrome: lessons learned from a rare ciliopathy., PMID:32897366
Indian child with novel variant in OFD1 gene., PMID:32677760
The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression., PMID:32473706
Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis., PMID:32381728
For research use only. Not for human or drug use.
