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The protein encoded by RBM28 is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes .
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Cow (Bovine) Polyclonal RBM28 Primary Antibody für IHC, WB - ABIN2779126
Suzuki, Yoshitomo-Nakagawa, Maruyama, Suyama, Sugano: Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. in Gene 1997
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The authors conclude that the ANE syndrome mutation generates defective RBM28 protein folding which abrogates protein-protein interactions and causes faulty pre-large subunit rRNA processing, thus revealing one aspect of the molecular basis of this human disease.
RBM28 controls the expression of miR (zeige MLXIP Antikörper)-203. RBM28 contributes to hair follicle growth regulation through modulation of miR (zeige MLXIP Antikörper)-203 and p63 (zeige RPE65 Antikörper) activity.
RBM28 gene defects should be added to the growing list of gene defects associated with syndromic combined anterior pituitary hormone (zeige CGA Antikörper) deficiency.
RBM28 is a common nucleolar component of the spliceosomal ribonucleoprotein complexes, possibly coordinating their transition through the nucleolus
A loss-of-function mutation is found in RBM28, encoding a nucleolar protein (zeige MCRS1 Antikörper) in patients with alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome).
The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
RNA binding motif protein 28
, RNA-binding protein 28-like
, RNA-binding protein 28
, RNA-binding motif protein 28