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TMEM138 encodes a multi-pass transmembrane protein. Additionally we are shipping TMEM138 Proteins (3) and many more products for this protein.
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Here we present clinical and molecular characterization of the case of an Emirati boy with Joubert syndrome, probably resulting from a splice-site mutation in TMEM138
study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region
This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants.
transmembrane protein 138