🧬 基因注释：GALE

官方名称：UDP-galactose-4-epimerase

功能摘要：This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008].

• HNRNPA2B1 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
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• Srsf3 综合评分: 0.294 · 证据 1 条
• SF3A3 综合评分: 0.262 · 证据 1 条
• Rnps1 综合评分: 0.260 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• UPF1 综合评分: 0.224 · 证据 1 条
• AQR 综合评分: 0.212 · 证据 1 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• CSTF2T 综合评分: 0.162 · 证据 2 条
• ACIN1 综合评分: 0.150 · 证据 2 条
• PRPF4 综合评分: 0.150 · 证据 1 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• Srsf2 综合评分: 0.150 · 证据 1 条
• Srsf4 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录