🧬 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].
- ACIN1 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- MBNL1 置信度: 2.0
- PCBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM20 置信度: 2.0
- AQR 置信度: 1.0
- PABPN1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- QKI 置信度: 1.0
- Rbpms 置信度: 1.0
- Rnps1 置信度: 1.0
- SF3A3 置信度: 1.0
- SRSF3 置信度: 1.0
该基因暂无关联疾病记录