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Rabbit Anti-C5ORF42/FITC Conjugated antibody
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential).
DISEASE:
Defects in C5orf42 are the cause of Joubert syndrome type 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.
Database links:
Entrez Gene: 65250 Human
SwissProt: Q9H799 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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