AMPH (amphiphysin)
- symbol:
- AMPH
- locus group:
- protein-coding gene
- location:
- 7p14.1
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 273
- ensembl gene id:
- ENSG00000078053
- ucsc gene id:
- uc003tgu.4
- refseq accession:
- NM_001635
- hgnc_id:
- HGNC:471
- approved reserved:
- 1994-12-12
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
该基因编码与突触小泡的细胞质表面相关联的蛋白质。患者僵人综合征谁也受到乳腺癌的一个子集是积极反对这种蛋白质的自身抗体。两个转录该基因的结果交替剪接变异体编码不同亚型。附加剪接变体已被描述，但是它们的全长序列尚未确定。该基因的假基因是在[由RefSeq的，2010年11月提供] 11号染色体发现
基因本体信息
AMPH基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
AMPH基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Centronuclear myopathy | 0.001085767 | 4 | 0 | BeFree |
| Congenital Structural Myopathy | 0.000814326 | 3 | 0 | BeFree |
| Myopathy | 0.000814326 | 3 | 0 | BeFree |
| Myopathy, Centronuclear, Autosomal Recessive | 0.000542884 | 2 | 0 | BeFree |
| Autosomal Recessive Centronuclear Myopathy | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 1 | BeFree |
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