🧬 基因注释：PRKACA
官方名称：protein kinase cAMP-activated catalytic subunit alpha
功能摘要：This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015].
- HNRNPC 综合评分: 0.448 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- PCBP2 综合评分: 0.360 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Mbnl2 综合评分: 0.344 · 证据 1 条
- UPF1 综合评分: 0.314 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- NOVA1 综合评分: 0.298 · 证据 2 条
- PCBP1 综合评分: 0.298 · 证据 2 条
该基因暂无关联疾病记录