Catalog No.
YHH76301
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Asn1432-Leu1647
Predicted molecular weight
51.24 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q4AC94
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
C2 domain-containing protein 3, C2CD3
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis., PMID:39690811
SMYD3 Controls Ciliogenesis by Regulating Distinct Centrosomal Proteins and Intraflagellar Transport Trafficking., PMID:38892227
The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning., PMID:38810379
Single-molecule localization microscopy reveals the ultrastructural constitution of distal appendages in expanded mammalian centrioles., PMID:36973278
Investigation of putative roles of smoking-associated salivary microbiome alterations on carcinogenesis by integrative in silico analysis., PMID:36587566
Pharmacological intervention of the FGF-PTH axis as a potential therapeutic for craniofacial ciliopathies., PMID:35818799
Evolutionary conservation of centriole rotational asymmetry in the human centrosome., PMID:35319462
Centriolar Protein C2cd3 Is Required for Craniofacial Development., PMID:34211969
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses., PMID:33875766
Mutation in the Ciliary Protein C2CD3 Reveals Organ-Specific Mechanisms of Hedgehog Signal Transduction in Avian Embryos., PMID:33805906
Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development., PMID:33797837
Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling., PMID:33589509
Myelomeningocele genotype-phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways., PMID:33470056
Genomic Characteristics and Selection Signatures in Indigenous Chongming White Goat (Capra hircus)., PMID:32973871
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis., PMID:30988386
A distal centriolar protein network controls organelle maturation and asymmetry., PMID:30258116
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants., PMID:30097616
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes., PMID:28289185
Understanding Mechanisms of GLI-Mediated Transcription during Craniofacial Development and Disease Using the Ciliopathic Mutant, talpid2., PMID:27799912
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function., PMID:27094867
Zika virus and autoimmunity: From microcephaly to Guillain-Barré syndrome, and beyond., PMID:27019049
Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome., PMID:26044959
Mutations in C2CD3 cause oral-facial-digital syndrome through deregulation of centriole length., PMID:25421854
SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans., PMID:25412110
The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2., PMID:25053433
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation., PMID:24997988
C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals., PMID:24469809
Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells., PMID:23769972
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment., PMID:22983010
Search for chromosome rearrangements: new approaches toward discovery of novel translocations in head and neck squamous cell carcinoma., PMID:22807096
C2cd3 is required for cilia formation and Hedgehog signaling in mouse., PMID:19004860
For research use only. Not for human or drug use.
