🧬 基因注释：RAB33B

官方名称：RAB33B, member RAS oncogene family

功能摘要：This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016].

• HNRNPC 综合评分: 0.474 · 证据 2 条
• EWSR1 综合评分: 0.312 · 证据 2 条
• RBM15 综合评分: 0.312 · 证据 2 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• FUBP1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• MBNL2 综合评分: 0.200 · 证据 1 条
• Rbmx 综合评分: 0.198 · 证据 1 条
• CPSF6 综合评分: 0.150 · 证据 2 条
• CSTF2 综合评分: 0.150 · 证据 2 条
• MSI1 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• ELAVL3 综合评分: 0.100 · 证据 1 条
• NXF1 综合评分: 0.100 · 证据 1 条
• Rbm7 综合评分: 0.100 · 证据 1 条
• Srsf7 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录