更多...
收起
Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
[中文简述(自动翻译):]  肌动蛋白是高度保守的那些涉及各类细胞运动和细胞骨架的保养的蛋白质。在脊椎动物中,肌动蛋白同种型,α,β和γ的三个主要组也已确定。阿尔法肌动蛋白在肌肉组织中发现,并且是收缩装置的主要成分。的β和γ肌动蛋白共同存在于大多数细胞类型的细胞骨架的成分,并作为内部细胞运动的介质。肌动蛋白,γ-1,由该基因编码的,是在非肌肉细胞中发现细胞质肌动蛋白。在这种基因突变与DFNA20 / 26,常染色体显性非综合征感进行性听力损失的一个子类型相关联。选择性剪接结果在多个抄本变形。[由RefSeq的,2011年1月提供]
ACTG1基因(以及对应的蛋白质)的细胞分布位置:
ACTG1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Deafness, Autosomal Dominant 20 | 0.36 | 5 | 9 | CLINVAR_CTD_human_UNIPROT |
| BARAITSER-WINTER SYNDROME 2 | 0.24 | 1 | 7 | CLINVAR_UNIPROT |
| Neoplastic Cell Transformation | 0.12 | 1 | 0 | CTD_human |
| Congenital ocular coloboma (disorder) | 0.12 | 1 | 0 | CTD_human |
| Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Osteoporosis | 0.12 | 1 | 0 | CTD_human |
| Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
| Congenital neurologic anomalies | 0.12 | 1 | 0 | CTD_human |
| Acute Coronary Syndrome | 0.12 | 1 | 0 | CTD_human |
| Schizophrenia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Sensorineural Hearing Loss (disorder) | 0.00272435 | 1 | 0 | LHGDN |
| hearing impairment | 0.00272435 | 1 | 0 | LHGDN |
| HIV Infections | 0.002714419 | 10 | 0 | BeFree |
| Hearing Loss, Mixed Conductive-Sensorineural | 0.001628651 | 6 | 1 | BeFree |
| Alzheimer's Disease | 0.000814326 | 3 | 0 | BeFree |
| Asthma | 0.000814326 | 3 | 0 | BeFree |
| Adrenocortical carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Nonsyndromic Deafness | 0.000814326 | 3 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
| Agenesis of corpus callosum | 0.000542884 | 2 | 0 | BeFree |
| Colorectal cancer metastatic | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
| Blepharoptosis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
| Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Leprosy | 0.000271442 | 1 | 0 | BeFree |
| leukemia | 0.000271442 | 1 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
| Malaria | 0.000271442 | 1 | 0 | BeFree |
| Malaria, Falciparum | 0.000271442 | 1 | 0 | BeFree |
| Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Parkinson Disease | 0.000271442 | 1 | 0 | BeFree |
| Peripheral Neuropathy | 0.000271442 | 1 | 0 | BeFree |
| Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
| Ptosis | 0.000271442 | 1 | 0 | BeFree |
| Deep Vein Thrombosis | 0.000271442 | 1 | 0 | BeFree |
| Pachygyria | 0.000271442 | 1 | 0 | BeFree |
| Coinfection | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of colon | 0.000271442 | 1 | 0 | BeFree |
| Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
| Dominant sensorineural hearing loss | 0.000271442 | 1 | 0 | BeFree |
| Dementia | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Subfertility | 0.000271442 | 1 | 0 | BeFree |
| Atypical teratoid/rhabdoid tumor | 0.000271442 | 1 | 0 | BeFree |
| Mild cognitive disorder | 0.000271442 | 1 | 1 | BeFree |
| Childhood Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Immune Reconstitution Inflammatory Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Cerebrofrontofacial Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。