RBM28 Antibody

1. 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. PMID: 27077951
2. RBM28 controls the expression of miR-203. RBM28 contributes to hair follicle growth regulation through modulation of miR-203 and p63 activity. PMID: 25939713
3. RBM28 gene defects should be added to the growing list of gene defects associated with syndromic combined anterior pituitary hormone deficiency. PMID: 20231366
4. RBM28 is a common nucleolar component of the spliceosomal ribonucleoprotein complexes, possibly coordinating their transition through the nucleolus PMID: 17081119
5. A loss-of-function mutation is found in RBM28, encoding a nucleolar protein in patients with alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). PMID: 18439547

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HGNC: 21863

OMIM: 612074

KEGG: hsa:55131

STRING: 9606.ENSP00000223073

UniGene: Hs.274263