🧬 基因注释：PAFAH1B1

官方名称：platelet activating factor acetylhydrolase 1b regulatory subunit 1

功能摘要：This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009].

• HNRNPM 综合评分: 0.448 · 证据 2 条
• HNRNPL 综合评分: 0.424 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• SRSF2 综合评分: 0.362 · 证据 1 条
• SRSF9 综合评分: 0.362 · 证据 1 条
• Srsf2 综合评分: 0.362 · 证据 1 条
• HNRNPA1 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
• QKI 综合评分: 0.350 · 证据 1 条
• Mbnl2 综合评分: 0.324 · 证据 1 条
• EWSR1 综合评分: 0.312 · 证据 2 条
• RBM10 综合评分: 0.312 · 证据 2 条
• RBM22 综合评分: 0.312 · 证据 2 条
• TIA1 综合评分: 0.312 · 证据 1 条
• Rnps1 综合评分: 0.306 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 证据 2 条

该基因暂无关联疾病记录