🧬 基因注释：TGDS
官方名称：TDP-glucose 4,6-dehydratase
功能摘要：The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015].
- HNRNPC 综合评分: 0.510 · 证据 2 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- FUBP1 综合评分: 0.348 · 证据 2 条
- Tardbp 综合评分: 0.310 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 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
- fus 综合评分: 0.300 · 证据 1 条
- CELF2 综合评分: 0.294 · 证据 2 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 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: 0.224 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- CPSF7 综合评分: 0.212 · 证据 2 条
该基因暂无关联疾病记录