Antibody data
- Antibody Data
- Antigen structure
- References [6]
- Comments [0]
- Validations [0]
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Validation data
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- Product number
- HPA042524 - Provider product page
- Provider
- Atlas Antibodies
- Proper citation
- Atlas Antibodies Cat#HPA042524, RRID:AB_10795706
- Product name
- Anti-CCDC114
- Antibody type
- Polyclonal
- Description
- Polyclonal Antibody against Human CCDC114, Gene description: coiled-coil domain containing 114, Alternative Gene Names: CILD20, FLJ32926, Validated applications: IHC, Uniprot ID: Q96M63, Storage: Store at +4°C for short term storage. Long time storage is recommended at -20°C.
- Reactivity
- Human
- Host
- Rabbit
- Conjugate
- Unconjugated
- Isotype
- IgG
- Vial size
- 100 µl
- Concentration
- 0.7 mg/ml
- Storage
- Store at +4°C for short term storage. Long time storage is recommended at -20°C.
- Handling
- The antibody solution should be gently mixed before use.
Submitted references Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype
A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Ostrowski L, Yin W, Smith A, Sears P, Bustamante-Marin X, Dang H, Hildebrandt F, Daniels L, Capps N, Sullivan K, Leigh M, Zariwala M, Knowles M
International Journal of Molecular Sciences 2022;23(3):1753
International Journal of Molecular Sciences 2022;23(3):1753
A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies
Liu Z, Nguyen Q, Guan Q, Albulescu A, Erdman L, Mahdaviyeh Y, Kang J, Ouyang H, Hegele R, Moraes T, Goldenberg A, Dell S, Mennella V
Science Translational Medicine 2020;12(535)
Science Translational Medicine 2020;12(535)
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H
PLoS genetics 2018 Aug;14(8):e1007602
PLoS genetics 2018 Aug;14(8):e1007602
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H
American journal of human genetics 2016 Aug 4;99(2):460-9
American journal of human genetics 2016 Aug 4;99(2):460-9
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM, UK10K Consortium, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM
American journal of human genetics 2014 Sep 4;95(3):257-74
American journal of human genetics 2014 Sep 4;95(3):257-74
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse J, Haarman E, Daniels J, Emes R, Wilson R, Hogg C, Scambler P, Chung E, Pals G, Mitchison H
The American Journal of Human Genetics 2013;92(1):88-98
The American Journal of Human Genetics 2013;92(1):88-98
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