🧬 基因注释：PEX19
官方名称：peroxisomal biogenesis factor 19
功能摘要：This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010].
- FUS 综合评分: 0.460 · 证据 1 条
- fus 综合评分: 0.460 · 证据 1 条
- HNRNPK 综合评分: 0.424 · 证据 2 条
- PTBP1 综合评分: 0.398 · 证据 2 条
- Srsf3 综合评分: 0.398 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- ELAVL3 综合评分: 0.286 · 证据 1 条
- Ptbp2 综合评分: 0.262 · 证据 1 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- Rbmx 综合评分: 0.244 · 证据 1 条
- U2af2 综合评分: 0.244 · 证据 1 条
- Srsf1 综合评分: 0.212 · 证据 1 条
- PCBP1 综合评分: 0.200 · 证据 2 条
该基因暂无关联疾病记录