TMEM237
Reaktivität: Human
WB, ELISA, IHC (fro), IHC (p), IF (cc), IF (p)
Wirt: Kaninchen
Polyclonal
unconjugated
Applikationshinweise
Optimal working dilution should be determined by the investigator.
Beschränkungen
Nur für Forschungszwecke einsetzbar
Rekonstitution
Add 50 μL of distilled water to a final concentration of 1 mg/mL.
Handhabung
Avoid repeated freezing and thawing.
Lagerung
4 °C/-20 °C
Informationen zur Lagerung
Store lyophilized at 2-8 °C or at -20 °C long term. After reconstitution store the antibody undiluted at 2-8 °C for up to one month or in aliquots at -20 °C long term.
TMEM237 or ALS2CR4 is a component of the transition zone in primary cilia and required for ciliogenesis. Defects in TMEM237 are the cause of Joubert syndrome type 14 (JBTS14). An autosomal recessive disorder characterized by severe mental retardation, 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 JBTS14 features include renal disease, abnormal eye movements, and postaxial polydactyly.Synonyms: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein, Transmembrane protein 237