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This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码,是在位于视网膜色素上皮细胞,并涉及生产11-顺式视黄醛和视色素的再生的蛋白质。有两种形式的这种蛋白质,称为sRPE65可溶形式,并称为mRPE65一棕榈酰化,膜结合形式。 mRPE65作为棕榈捐助卵磷脂视黄醇酰基转移酶(LRAT)催化维生素A生色团再生过程的全反式视黄醇工序的酶。既mRPE65和sRPE65兼作调节蛋白,用比与这些分子扮演的11-顺式视黄醛合成的抑制的作用的浓度。在这种基因突变与莱伯先天性黑朦2型(LCA2)和色素性视网膜炎相关联。 [由RefSeq的,2008年7月提供]
RPE65基因(以及对应的蛋白质)的细胞分布位置:
RPE65基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) | 0.440271442 | 12 | 8 | BeFree_CLINVAR_CTD_human_MGD_UNIPROT |
Retinitis Pigmentosa | 0.372711618 | 13 | 2 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET |
Retinitis Pigmentosa 20 | 0.32 | 8 | 8 | CLINVAR_MGD_UNIPROT |
Leber Congenital Amaurosis | 0.255743629 | 59 | 1 | BeFree_CTD_human_ORPHANET |
Blind Vision | 0.140722847 | 9 | 0 | CTD_human_GAD_LHGDN |
Retinal Dystrophies | 0.124885954 | 19 | 1 | BeFree_CTD_human |
Optic Atrophy, Hereditary, Leber | 0.122638474 | 4 | 0 | BeFree_CTD_human_GAD |
Choroideremia | 0.12 | 0 | 0 | ORPHANET |
Eye Diseases, Hereditary | 0.12 | 1 | 0 | CTD_human |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Squamous cell carcinoma | 0.012757768 | 47 | 0 | BeFree |
Carcinogenesis | 0.010586233 | 39 | 0 | BeFree |
Ectodermal Dysplasia | 0.007057489 | 26 | 0 | BeFree |
Retinal Degeneration | 0.006981544 | 18 | 1 | BeFree_GAD |
Split-Hand/Foot Malformation | 0.004885954 | 18 | 1 | BeFree |
Rudiger syndrome 1 | 0.004614512 | 17 | 0 | BeFree |
Hay-Wells syndrome | 0.004614512 | 17 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.003800186 | 14 | 0 | BeFree |
Neoplasm Metastasis | 0.003528744 | 13 | 0 | BeFree |
Ectrodactyly | 0.003528744 | 13 | 0 | BeFree |
Split hand foot deformity 1 | 0.003528744 | 13 | 0 | BeFree |
Retinal Diseases | 0.003452799 | 5 | 0 | BeFree_GAD |
Adenocarcinoma | 0.002985861 | 11 | 0 | BeFree |
Breast Carcinoma | 0.002985861 | 11 | 1 | BeFree |
Cleft palate with cleft lip | 0.002442977 | 9 | 0 | BeFree |
RAPP-HODGKIN SYNDROME | 0.002442977 | 9 | 0 | BeFree |
Malignant neoplasm of breast | 0.002171535 | 8 | 1 | BeFree |
Tumor Progression | 0.001900093 | 7 | 0 | BeFree |
Amaurosis | 0.001900093 | 7 | 1 | BeFree |
ADULT SYNDROME | 0.001900093 | 7 | 0 | BeFree |
Congenital Abnormality | 0.001628651 | 6 | 0 | BeFree |
Malignant neoplasm of prostate | 0.001628651 | 6 | 0 | BeFree |
Prostate carcinoma | 0.001628651 | 6 | 0 | BeFree |
Unspecified visual loss | 0.001628651 | 6 | 3 | BeFree |
Malignant neoplasm of urinary bladder | 0.001357209 | 5 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Ovarian Carcinoma | 0.001357209 | 5 | 1 | BeFree |
Lichen Planus, Oral | 0.001357209 | 5 | 0 | BeFree |
Ankyloblepharon | 0.001357209 | 5 | 0 | BeFree |
Carcinoma of bladder | 0.001357209 | 5 | 0 | BeFree |
Retinal Dystrophy, Early Onset Severe | 0.001357209 | 5 | 0 | BeFree |
Limb Deformities, Congenital | 0.001085767 | 4 | 0 | BeFree |
Cervix carcinoma | 0.001085767 | 4 | 0 | BeFree |
Autosomal recessive retinitis pigmentosa | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of ovary | 0.001085767 | 4 | 1 | BeFree |
Adenoid Cystic Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Congenital Foot Deformity | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of lung | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma of bone | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
Sarcoma | 0.000814326 | 3 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000814326 | 3 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Merkel cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
Carcinoma, Papillary | 0.000542884 | 2 | 0 | BeFree |
Cleft Lip | 0.000542884 | 2 | 0 | BeFree |
Cleft Palate | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Keloid | 0.000542884 | 2 | 0 | BeFree |
Actinic keratosis | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Psoriasis | 0.000542884 | 2 | 0 | BeFree |
Rhabdomyosarcoma | 0.000542884 | 2 | 0 | BeFree |
Salivary Gland Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Dermatologic disorders | 0.000542884 | 2 | 0 | BeFree |
Aphthous Stomatitis | 0.000542884 | 2 | 0 | BeFree |
Ulcerative stomatitis | 0.000542884 | 2 | 0 | BeFree |
Tuberculosis | 0.000542884 | 2 | 0 | BeFree |
B-Cell Lymphomas | 0.000542884 | 2 | 0 | BeFree |
Familial benign pemphigus | 0.000542884 | 2 | 0 | BeFree |
Epstein-Barr Virus Infections | 0.000542884 | 2 | 0 | BeFree |
Small cell carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Atrophic condition of skin | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
Esophageal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of testis | 0.000542884 | 2 | 0 | BeFree |
Undifferentiated carcinoma | 0.000542884 | 2 | 0 | BeFree |
Adenosquamous carcinoma | 0.000542884 | 2 | 0 | BeFree |
Mucoepidermoid Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Neuroendocrine Tumors | 0.000542884 | 2 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000542884 | 2 | 0 | BeFree |
Split foot | 0.000542884 | 2 | 0 | BeFree |
Minor oral aphthous ulceration | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of larynx | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
Testicular malignant germ cell tumor | 0.000542884 | 2 | 0 | BeFree |
ovarian neoplasm | 0.000542884 | 2 | 0 | BeFree |
Ductal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Mammary Neoplasms | 0.000542884 | 2 | 1 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
Photoreceptor degeneration | 0.000542884 | 2 | 1 | BeFree |
Asthma | 0.000271442 | 1 | 0 | BeFree |
Barrett Esophagus | 0.000271442 | 1 | 0 | BeFree |
Bladder Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of skin | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Uterine Cervical Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Chondroblastoma | 0.000271442 | 1 | 0 | BeFree |
Diabetic Retinopathy | 0.000271442 | 1 | 0 | BeFree |
Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Giant Cell Tumors | 0.000271442 | 1 | 0 | BeFree |
Influenza | 0.000271442 | 1 | 0 | BeFree |
Keratoconjunctivitis Sicca | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, Follicular | 0.000271442 | 1 | 0 | BeFree |
Mycosis Fungoides | 0.000271442 | 1 | 0 | BeFree |
Myoepithelioma | 0.000271442 | 1 | 0 | BeFree |
Nephroblastoma | 0.000271442 | 1 | 0 | BeFree |
Osteoblastoma | 0.000271442 | 1 | 0 | BeFree |
Skin Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Soft Tissue Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Syndactyly | 0.000271442 | 1 | 0 | BeFree |
Teratoma | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, T-Cell, Cutaneous | 0.000271442 | 1 | 0 | BeFree |
Adenosis of Breast | 0.000271442 | 1 | 0 | BeFree |
Bone Cysts, Aneurysmal | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Hidrotic Ectodermal Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Ki-1+ Anaplastic Large Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Giant Cell Tumor of Bone | 0.000271442 | 1 | 0 | BeFree |
Fibroadenoma | 0.000271442 | 1 | 0 | BeFree |
Trophoblastic Tumor, Placental Site | 0.000271442 | 1 | 0 | BeFree |
Verrucous carcinoma | 0.000271442 | 1 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Comedone | 0.000271442 | 1 | 0 | BeFree |
Pseudolymphoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Inflammatory Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Gallbladder adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Laryngeal Squamous Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Fundus Albipunctatus | 0.000271442 | 1 | 0 | BeFree |
Night blindness, congenital stationary | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Craniofacial Abnormalities | 0.000271442 | 1 | 0 | BeFree |
Poikiloderma of Kindler | 0.000271442 | 1 | 0 | BeFree |
Visual symptoms | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Recurrent Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of skin | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of mouth | 0.000271442 | 1 | 0 | BeFree |
invasive cancer | 0.000271442 | 1 | 0 | BeFree |
Disorder of macula of retina | 0.000271442 | 1 | 0 | BeFree |
Drusen | 0.000271442 | 1 | 0 | BeFree |
Large cell neuroendocrine carcinoma | 0.000271442 | 1 | 0 | BeFree |
Metaplastic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Degenerative disorder | 0.000271442 | 1 | 0 | BeFree |
Severe visual impairment | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classical Hodgkin Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Epithelioma | 0.000271442 | 1 | 0 | BeFree |
Malignant Conversion | 0.000271442 | 1 | 0 | BeFree |
Skin Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Limbal stem cell deficiency | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Cleft lip, isolated | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Proliferative Inflammatory Atrophy | 0.000271442 | 1 | 0 | BeFree |
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