Anti-C5ORF42 polyclonal antibody (DPABH-20658)

Rabbit anti-Human C5ORF42 (aa 1615-1691) polyclonal antibody for ICC/IF, IHC-P

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
antigen sequence: IAENIEQDFP KPEMLDLHCD KIGPVDHIEF SSGPEFKKTL ASKTISISEE VRFLTHMDEE DQSDKKETSE PEFSITE, corresponding to amino acids 1615-1691 of Human C5orf42.
Conjugate
Unconjugated

Applications


Application Notes
ICC/IF: 1 - 4 μg/ml. IHC-P: 1/1000.
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.

Target


Alternative Names
C5ORF42; chromosome 5 open reading frame 42; JBTS17; uncharacterized protein C5orf42; Transmembrane protein ENSP00000382582
Entrez Gene ID
UniProt ID

Product Background


Gene summary
C5orf42 (Chromosome 5 Open Reading Frame 42) is a Protein Coding gene. Diseases associated with C5orf42 include joubert syndrome 17 and orofaciodigital syndrome vi. The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS).
Antigen Description
C5orf42 (chromosome 5 open reading frame 42) is a protein-coding gene. Diseases associated with C5orf42 include monomelic amyotrophy , and c5orf42-related joubert syndrome. Joubert syndrome 17 (JBTS17) [MIM:614615]: 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 and renal disease. Note=The disease is caused by mutations affecting the gene represented in this entry. Orofaciodigital syndrome 6 (OFD6) [MIM:277170]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch. Chromosome 5 open reading frame 42 is a protein that in humans is encoded by the C5orf42 gene.

Citations


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Custom Antibody Labeling


We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More

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References


Mohiddin, SA; Lu, SJ; et al. Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle. CELL MOTILITY AND THE CYTOSKELETON 55:200-212(2003).
Hanley, SA; Aduse-Opoku, J; et al. A 55-kilodalton immunodominant antigen of Porphyromonas gingivalis W50 has arisen via horizontal gene transfer. INFECTION AND IMMUNITY 67:1157-1171(1999).

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