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This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]
[中文简述(自动翻译):] 这个基因编码的线粒体RNA加工内切核糖核酸酶的RNA组分,其裂解线粒体RNA在线粒体DNA复制的引发位点。该RNA也与端粒酶相互作用逆转录酶催化亚基以形成具有RNA依赖性RNA聚合酶活性,并产生可以被加工成小干扰RNA双链RNA鲜明核糖核蛋白复合物。在这个基因的突变与软骨毛发发育不全有关。[由RefSeq的,2010年3月提供]
RMRP基因(以及对应的蛋白质)的细胞分布位置:
RMRP基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cartilage-hair hypoplasia | 0.37302921 | 48 | 8 | BeFree_CLINVAR_CTD_human_ORPHANET |
Anauxetic dysplasia | 0.360814326 | 3 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET |
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS | 0.240271442 | 1 | 2 | BeFree_CLINVAR_CTD_human |
Omenn Syndrome | 0.12 | 0 | 0 | ORPHANET |
Neoplasm Metastasis | 0.004614512 | 17 | 0 | BeFree |
Dwarfism | 0.003800186 | 14 | 0 | BeFree |
Aplastic Anemia | 0.00272435 | 1 | 0 | LHGDN |
Metaphyseal chondrodysplasia | 0.002714419 | 10 | 0 | BeFree |
Skeletal dysplasia | 0.001357209 | 5 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
Ovarian Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Pyle metaphyseal dysplasia | 0.001085767 | 4 | 0 | BeFree |
Chondrodysplasia | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Endometriosis | 0.000542884 | 2 | 0 | BeFree |
Failure to Thrive | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Mucopolysaccharidosis IV | 0.000542884 | 2 | 0 | BeFree |
Osteochondrodysplasias | 0.000542884 | 2 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
Anemia, severe | 0.000542884 | 2 | 0 | BeFree |
Dyskeratosis Congenita | 0.000542884 | 2 | 0 | BeFree |
Malonic aciduria | 0.000542884 | 2 | 0 | BeFree |
growth hormone treatment | 0.000542884 | 2 | 0 | BeFree |
Growth failure | 0.000542884 | 2 | 0 | BeFree |
Macular dystrophy, corneal type 1 | 0.000542884 | 2 | 0 | BeFree |
Bone Marrow failure syndromes | 0.000542884 | 2 | 0 | BeFree |
Bronchiectasis | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Diarrhea | 0.000271442 | 1 | 0 | BeFree |
Hydrocephalus | 0.000271442 | 1 | 0 | BeFree |
Hypercalciuria | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Follicular thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Disorder of skeletal system | 0.000271442 | 1 | 0 | BeFree |
Metaphyseal chondrodysplasia Schmid type | 0.000271442 | 1 | 0 | BeFree |
Shwachman syndrome | 0.000271442 | 1 | 0 | BeFree |
Congenital stenosis | 0.000271442 | 1 | 0 | BeFree |
Congenital neutropenia | 0.000271442 | 1 | 0 | BeFree |
Multiple malignancy | 0.000271442 | 1 | 0 | BeFree |
Epiphyseal dysplasia | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
early pregnancy | 0.000271442 | 1 | 0 | BeFree |
ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
Invasive Ductal Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
T-lymphocyte immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Severe congenital neutropenia | 0.000271442 | 1 | 0 | BeFree |
Cytogenetically normal acute myeloid leukemia | 0.000271442 | 1 | 0 | BeFree |
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