CD34是一种高度糖基化的I型跨膜蛋白,属于CD分子家族(Cluster of Differentiation,分化簇),主要作为细胞表面标志物用于识别和分离造血干细胞(HSC)及血管内皮细胞。其生物学功能包括参与细胞间黏附、介导干细胞归巢(homing)至骨髓微环境,并可能在血管生成和炎症反应中发挥作用。CD34的表达产物通过与其他分子(如选择素L-selectin)相互作用,帮助造血干细胞锚定在骨髓基质中。该基因的主要作用位点是细胞膜,尤其在未成熟造血细胞和血管内皮细胞表面富集。CD34基因突变较为罕见,但可能影响造血干细胞的迁移和归巢能力,导致造血功能障碍或免疫缺陷。目前尚未明确CD34突变与特定疾病的直接关联,但其表达水平变化与某些血液系统疾病(如白血病)和血管肿瘤相关。CD34过表达可能促进血管增生,与肿瘤血管生成及转移相关;而降低表达可能影响造血干细胞的维持和修复能力。CD34属于唾液黏蛋白(sialomucin)家族,该家族成员共性为含有大量O-糖基化修饰和带负电荷的唾液酸残基,这类结构赋予其抗黏附特性,同时能在特定条件下转变为促黏附分子。CD34的表达水平常作为临床检测造血干细胞和血管内皮细胞的标志物,但其确切分子机制仍需进一步研究。
The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Subcellular localization of CD34 (and its protein):
Gene Ontology (GO) terms for CD34:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
| 4640 Hematopoietic cell lineage [PATH:hsa04640] |
| Name |
|---|
| Adaptive Immune System |
| Immune System |
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| Disease | Score | NofPmids | NofSnps | Source |
| Neoplastic Cell Transformation | 0.12 | 1 | 0 | CTD_human |
| Leukemia, Myelocytic, Acute | 0.06897603 | 227 | 0 | BeFree_LHGDN |
| Myeloid Leukemia, Chronic | 0.039107493 | 125 | 0 | BeFree_LHGDN |
| leukemia | 0.021986792 | 81 | 0 | BeFree |
| HIV Infections | 0.01575356 | 48 | 0 | BeFree_LHGDN |
| Gastrointestinal Stromal Tumors | 0.012496258 | 36 | 0 | BeFree_LHGDN |
| Acute Promyelocytic Leukemia | 0.01114898 | 22 | 0 | BeFree_LHGDN |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.010606096 | 20 | 0 | BeFree_LHGDN |
| Primary Myelofibrosis | 0.009238955 | 24 | 2 | BeFree_LHGDN |
| Severe Combined Immunodeficiency | 0.008957582 | 33 | 0 | BeFree |
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