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This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]
[中文简述(自动翻译):]  该基因编码的profilin的家庭小肌动蛋白结合蛋白的成员。所编码的蛋白质起着通过响应于细胞外信号调节肌动蛋白聚合的肌动蛋白动力学具有重要作用。该基因的缺失与米勒 - Dieker综合征相关联,并且所编码的蛋白质也可起到在Huntington疾病的作用。该基因的多个假都位于1号染色体上[由RefSeq的,2012年7月提供]
PFN1基因(以及对应的蛋白质)的细胞分布位置:
PFN1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| AMYOTROPHIC LATERAL SCLEROSIS 18 | 0.24 | 1 | 4 | CLINVAR_UNIPROT |
| Amyotrophic Lateral Sclerosis | 0.124614512 | 17 | 1 | BeFree_ORPHANET |
| Keloid | 0.12 | 1 | 0 | CTD_human |
| Squamous cell carcinoma of esophagus | 0.12 | 1 | 0 | CTD_human |
| Glomerulonephritis, Membranoproliferative | 0.08 | 1 | 0 | RGD |
| Mammary Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Nasopharyngeal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of breast | 0.002442977 | 9 | 0 | BeFree |
| Breast Carcinoma | 0.002442977 | 9 | 0 | BeFree |
| AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.001357209 | 5 | 0 | BeFree |
| Neoplasm Metastasis | 0.001085767 | 4 | 0 | BeFree |
| Pick Disease of the Brain | 0.001085767 | 4 | 1 | BeFree |
| Frontotemporal dementia | 0.001085767 | 4 | 1 | BeFree |
| Frontotemporal Lobar Degeneration | 0.001085767 | 4 | 0 | BeFree |
| Renal Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Pancreatic carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000814326 | 3 | 0 | BeFree |
| Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
| Neurodegenerative Disorders | 0.000542884 | 2 | 0 | BeFree |
| Amyotrophic Lateral Sclerosis, Sporadic | 0.000542884 | 2 | 0 | BeFree |
| Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
| Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Spinal Muscular Atrophy | 0.000271442 | 1 | 0 | BeFree |
| Wiskott-Aldrich Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Motor Neuron Disease | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Dementia | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of larynx | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| ABLEPHARON-MACROSTOMIA SYNDROME | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| GRN-related frontotemporal dementia | 0.000271442 | 1 | 0 | BeFree |
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