Rabbit Anti-TMEM237 Recombinant Antibody (EG159) (CBMAB-EN173-LY)

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Basic Information

Host Animal
Rabbit
Clone
EG159
Application
WB: 1:500~1:1000 ELISA: 1:20000
Immunogen
The antibody was produced against synthesized peptide derived from internal of human ALS2CR4.
Specificity
Human, Mouse
Antibody Isotype
IgG
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.
More Infomation

Target

Full Name
TMEM237 Gene(Protein Coding) Transmembrane Protein 237
Introduction
The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Entrez Gene ID
Human65062
Mouse381259
UniProt ID
HumanQ96Q45
MouseQ3V0J1
Alternative Names
Transmembrane Protein 237; Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 4 Protein; Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 4; ALS2CR4; JBTS14;
Function
Component of the transition zone in primary cilia. Required for ciliogenesis.
Biological Process
Biological Process cilium assemblySource:UniProtKB1 Publication
Biological Process regulation of Wnt signaling pathwaySource:UniProtKB1 Publication
Cellular Location
Membrane
Cell projection, cilium
Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.
Involvement in disease
Joubert syndrome 14 (JBTS14):
An autosomal recessive disorder characterized by severe intellectual disability, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. 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 renal disease, abnormal eye movements, and postaxial polydactyly.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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