🧬 基因注释：B4GALT7
官方名称：beta-1,4-galactosyltransferase 7
功能摘要：This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009].
- PTBP1 综合评分: 0.444 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 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
- PCBP2 综合评分: 0.324 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- CELF2 综合评分: 0.294 · 证据 2 条
- PRPF8 综合评分: 0.262 · 证据 1 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
- AQR 综合评分: 0.248 · 证据 1 条
- GRSF1 综合评分: 0.248 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
- UPF1 综合评分: 0.162 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- CPSF6 综合评分: 0.150 · 证据 2 条
该基因暂无关联疾病记录