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Rabbit Anti-B9D1 Antibody (CSB-PA892487ESR1HU)
Supplier: CUSABIO BIOTECH CO.
B9 domain-containing protein 1 Antibody,MKS1-related protein 1 Antibody,B9D1 Antibody,MKSR1 AntibodyMore alternative names for the antibody
AW045994 antibody|MKS9 antibody|MKSR1 antibody|RP23-155J3.3 antibody
Anti-B9D1 antibody (ab125698)
Anti-B9D1 antibody (ab125698)
Recommended applications: ELISA, WB, IHC
Recommended dilution: User optimized
Recommended protocols: check protocols
|Catalogue No.|| |
Recombinant human B9 domain-containing protein 1 protein (1-130AA)
ELISA, WB, IHC
|Recommended dilution|| |
|Molecular weight|| |
Antigen Affinity Purified
Shipped at 4 Celcius Degree. Upon delivery aliquot and store at -20 Celcius Degree or -80 Celcius Degree. Avoid repeated freeze.
|Protein function|| |
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). .
|Involvement in disease|| |
Meckel syndrome 9 (MKS9) [MIM:614209]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Joubert syndrome 27 (JBTS27) [MIM:617120]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal recessive. . Note=The disease is caused by mutations affecting the gene represented in this entry.
|Protein sequence and domain|| |
Belongs to the B9D family.
|Protein cellular localization|| |
Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, cilium axoneme . Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. .
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CUSABIO BIOTECH CO.
|Product type|| |
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