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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| RBM28-20-RE | 20 (40 μL) | 200 μL |  |
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| RBM28-20-OR | 20 (40 μL) | 200 μL |  |
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| RBM28-20-GO | 20 (40 μL) | 200 μL |  |
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| RBM28-20-GR | 20 (40 μL) | 200 μL |  |
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| RBM28-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : RBM28
Gene Name : RNA binding motif protein 28
Chromosome : CHR 7: 128,343,914-128,304,119
Locus : 7q32.1
Alt. Genes : CELA3A
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