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Rabbit Anti-MKS1 Antibody (CSB-PA882132ESR2HU)
Supplier: CUSABIO BIOTECH CO.
MKS1 AntibodyMore alternative names for the antibody
B8d3 antibody|BBS13 antibody|Dysencephalia splanchnocystica antibody|FABB proteome like protein antibody|FLJ20345 antibody|Gruber syndrome antibody|Meckel gruber syndrome antibody|Meckel gruber syndrome type 1 antibody|Meckel syndrome antibody|Meckel syndrome type 1 antibody|Meckel syndrome type 1 protein antibody|Meckel syndrome type 1 protein homolog antibody|MES antibody|MKS 1 antibody|MKS antibody|Mks1 antibody|MKS1_HUMAN antibody|POC12 antibody|POC12 centriolar protein homolog antibody
Anti-MKS1 antibody (ab150807)
Anti-MKS1 antibody (ab150807)
Recommended applications: ELISA, IHC, IP
Recommended dilution: Recommended dilution:IHC:1:20-1:200,IP:1:200-1:2000
Recommended protocols: check protocols
|Catalogue No.|| |
Recombinant human Meckel syndrome type 1 protein (150-300AA)
ELISA, IHC, IP
|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.
|Database links|| |
Entrez Gene:54903( Human), Entrez Gene:380718( Mouse), Entrez Gene:287612( Rat), Omim:609883( Human), SwissProt:Q9NXB0( Human), SwissProt:Q5SW45( Mouse), SwissProt:Q499Q5( Rat), Unigene:408843( Human)
|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. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. .
|Involvement in disease|| |
Meckel syndrome 1 (MKS1) [MIM:249000]: 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.; Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. . Note=The disease is caused by mutations affecting the gene represented in this entry.; Joubert syndrome 28 (JBTS28) [MIM:617121]: 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. JBTS28 inheritance is autosomal recessive. . Note=The disease is caused by mutations affecting the gene represented in this entry.
|Protein cellular localization|| |
Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. 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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