更多...
收起
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码的调光吸收视蛋白基因家族的视色素。所编码的蛋白质被称为红锥感光色素或长波长敏感视蛋白。视蛋白是G蛋白偶联受体与七个跨膜结构域,N-末端细胞外结构域和C末端细胞质结构域。此基因和中波长视蛋白基因而串联排列的X染色体和频繁不等重组和基因转化这些序列之间可能会发生。 X染色体可具有中等和长波长视蛋白基因的融合体或可以具有这些基因的多于一个的拷贝。这种基因缺陷是局部的,protanopic色盲的原因。 [由RefSeq的,2008年7月提供]
OPN1LW基因(以及对应的蛋白质)的细胞分布位置:
OPN1LW基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cone monochromatism | 0.48 | 1 | 2 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
| COLORBLINDNESS, PARTIAL, PROTAN SERIES | 0.24 | 1 | 0 | CTD_human_UNIPROT |
| Color Blindness, Red | 0.12 | 0 | 1 | CLINVAR |
| Achromatopsia incomplete, X-linked | 0.12 | 0 | 0 | ORPHANET |
| Leukemia, Myelocytic, Acute | 0.005157396 | 19 | 0 | BeFree |
| Rubinstein-Taybi Syndrome | 0.002985861 | 11 | 0 | BeFree |
| leukemia | 0.002714419 | 10 | 0 | BeFree |
| Retinal Diseases | 0.002367032 | 1 | 0 | GAD |
| Sarcoidosis | 0.002367032 | 1 | 0 | GAD |
| Rothmund-Thomson syndrome | 0.001900093 | 7 | 0 | BeFree |
| Rett Syndrome | 0.001900093 | 7 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.001900093 | 7 | 0 | BeFree |
| Leukemogenesis | 0.001900093 | 7 | 0 | BeFree |
| Prostate carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Malignant neoplasm of breast | 0.001628651 | 6 | 0 | BeFree |
| Breast Carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Carcinogenesis | 0.001357209 | 5 | 0 | BeFree |
| Acute leukemia | 0.001085767 | 4 | 0 | BeFree |
| Treatment related acute myeloid leukaemia | 0.001085767 | 4 | 0 | BeFree |
| Tumor Progression | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000814326 | 3 | 0 | BeFree |
| Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
| Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
| Developmental Disabilities | 0.000542884 | 2 | 0 | BeFree |
| Acute myelomonocytic leukemia | 0.000542884 | 2 | 0 | BeFree |
| Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
| Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Virus Diseases | 0.000542884 | 2 | 0 | BeFree |
| Memory impairment | 0.000542884 | 2 | 0 | BeFree |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
| Adenovirus Infections | 0.000271442 | 1 | 0 | BeFree |
| Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
| Candidiasis | 0.000271442 | 1 | 0 | BeFree |
| Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
| HIV Infections | 0.000271442 | 1 | 0 | BeFree |
| Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, Myelomonocytic, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Adult T-Cell Lymphoma/Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Leukoencephalopathy, Progressive Multifocal | 0.000271442 | 1 | 0 | BeFree |
| Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
| Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| melanoma | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
| Pallor | 0.000271442 | 1 | 0 | BeFree |
| Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
| Septicemia | 0.000271442 | 1 | 0 | BeFree |
| Diffuse Large B-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Ataxia, Spinocerebellar | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Color blindness | 0.000271442 | 1 | 0 | BeFree |
| Panhypopituitarism | 0.000271442 | 1 | 0 | BeFree |
| Sepsis | 0.000271442 | 1 | 0 | BeFree |
| Severe myopia | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
| Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
| Spinocerebellar Ataxia Type 1 | 0.000271442 | 1 | 0 | BeFree |
| Ductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Congenital central hypoventilation | 0.000271442 | 1 | 0 | BeFree |
| Therapy-related myelodysplastic syndrome | 0.000271442 | 1 | 0 | BeFree |
| Tumor Angiogenesis | 0.000271442 | 1 | 0 | BeFree |
| Neurodevelopmental Disorders | 0.000271442 | 1 | 0 | BeFree |
| Promyelocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Treatment related leukaemia | 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。