🧬 基因注释:BCAM
官方名称:basal cell adhesion molecule (Lutheran blood group)
功能摘要:This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].
- 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
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- RBFOX2 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
- PRPF8 综合评分: 0.262 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- PCBP1 综合评分: 0.200 · 证据 2 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- PABPN1 综合评分: 0.162 · 证据 1 条
- ACIN1 综合评分: 0.150 · 证据 2 条
- AQR 综合评分: 0.150 · 证据 1 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
该基因暂无关联疾病记录