🧬 基因注释：DMPK
官方名称：DM1 protein kinase
功能摘要：The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016].
- HNRNPK 综合评分: 0.424 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- CELF2 综合评分: 0.324 · 证据 2 条
- Tardbp 综合评分: 0.310 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- Srsf2 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.298 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- MBNL2 综合评分: 0.262 · 证据 1 条
- Mbnl2 综合评分: 0.262 · 证据 1 条
- Ptbp2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
该基因暂无关联疾病记录