RBM28 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Oct 2009]

RBM28: Nucleolar component of the spliceosomal ribonucleoprotein complexes. Defects in RBM28 are the cause of alopecia neurologic defects and endocrinopathy syndrome (ANES). Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.

Protein type: RNA splicing; RNA-binding; Nucleolus

Chromosomal Location of Human Ortholog: 7q32.1

Cellular Component: spliceosome; nucleolus

Molecular Function: nucleotide binding

Biological Process: RNA splicing; mRNA processing

Disease: Alopecia, Neurologic Defects, And Endocrinopathy Syndrome