🧬 基因注释：PAFAH1B3

官方名称：platelet activating factor acetylhydrolase 1b catalytic subunit 3

功能摘要：This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009].

• MBNL1 综合评分: 0.350 · 证据 2 条
• Tardbp 综合评分: 0.346 · 证据 1 条
• RBM15 综合评分: 0.312 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• Srsf3 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: 0.262 · 证据 1 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• NXF1 综合评分: 0.162 · 证据 1 条
• ACIN1 综合评分: 0.150 · 证据 2 条
• CPSF6 综合评分: 0.150 · 证据 2 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• PABPC4 综合评分: 0.150 · 证据 2 条
• Srsf2 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• EIF4A3 综合评分: 0.100 · 证据 2 条
• Rbm7 综合评分: 0.100 · 证据 1 条
• Rbmx 综合评分: 0.100 · 证据 1 条
• Rnps1 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录