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]
人 RBM28 (NM_001166135) cDNA克隆
| Accession: | NM_001166135 |
|---|---|
| 基因名称: | RBM28 |
| 基因描述: | Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 2, mRNA. |
| 种属: | Human |
| CDS区长度: | 1857 (查看编码区序列) |
| 翻译后氨基酸长度: | 618 (查看氨基酸序列) |
| Transcript Variant: | This variant (2) lacks four exons in the 5' coding region, as compared to variant 1. The reading frame is not changed, but the resulting isoform (2) has lost part of the RRMs 1 and 2, as compared to isoform 1. |
| 人 RBM28 (NM_018077) cDNA克隆 | transcript variant 1 |
| 人 RBM28 (NM_001166135) cDNA克隆 | transcript variant 2 |
扫一扫 加微信
联系我们
- 客服热线:
0731-84158353 - 订货邮箱:
order@youbio.cn - 技术支持:
tech@youbio.cn 
QQ：2605877374
