RMRP - RNA component of mitochondrial RNA processing endoribonuclease Gene

Homo sapiens

Also known as CHH; NME1; RRP2; RMRPR

Gene ID: 6023 | Gene type: ncRNA

About RMRP

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,657,751-35,658,018 (from NCBI)

This gene has 1 transcript (splice variant) and is associated with 7 phenotypes.

Summary

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]

Related Diseases

Diseases

Alias

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type	CHH
Mckusick Type Metaphyseal Chondrodysplasia	Metaphyseal Dysplasia Without Hypotrichosis
Cartilage Hair Hypoplasia Like Syndrome	Metaphyseal Chondrodysplasia Mckusick Type
Chhv	Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency	Cartilage-Hair Syndrome
Mckusick'S Metaphyseal Chondrodysplasia Syndrome	Metaphyseal Chondrodysplasia, Recessive Type
Autosomal Recessive Metaphyseal Chondrodysplasia

Anauxetic Dysplasia 1

Anauxetic Dysplasia	Spondylometaepiphyseal Dysplasia, Menger Type
Spondylometaepiphyseal Dysplasia, Anauxetic Type	Spondyloepimetaphyseal Dysplasia, Anauxetic Type
ANXD1	Anxd
Spondylometaepiphyseal Dysplasia Anauxetic Type	Spondylometaepiphyseal Dysplasia Menger Type
Ad	Spondyloepimetaphyseal Dysplasia, Menger Type
Dysplasia, Anauxetic, Type 1

Metaphyseal Dysplasia Without Hypotrichosis

MDWH	Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only	Chhv
Dysplasia, Metaphyseal, Without Hypotrichosis

Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

Metaphyseal Dysplasia

Bakwin-Krida Syndrome	Pyle'S Disease
Pyle-Cohn Syndrome

Gastric Cancer

Stomach Cancer	Gastric Carcinoma
Stomach Carcinoma	Gastric Cancer, Somatic
Gastric Neoplasm	Carcinoma Of Stomach
Stomach Neoplasms	Malignant Neoplasm Of Stomach
Gastric Cancer Risk After H. Pylori Infection	Cancer Of The Stomach
Adult Stomach Cancer	Adult Stomach Carcinoma
GASC	Gastric Cancer Intestinal
Gastric Cancers	Gastric Carcinomas
Cancer, Gastric	Stomach Neoplasm
Malignant Neoplasm Of Body Of Stomach	Malignant Tumor Of Lesser Curve Of Stomach
Gastrocarcinoma Of Unspecified Site	Leather Bottle Stomach
Carcinoma Of Fundus Of Stomach	Cancer Of Fundus Of Stomach
Primary Malignant Neoplasm Of Body Of Stomach	Cancer Of Body Of Stomach
Primary Malignant Neoplasm Of Pyloric Antrum	Pyloric Antrum Cancer
Malignant Tumour Of Stomach

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Hepatic Venoocclusive Disease With Immunodeficiency

VODI	Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatic Veno-Occlusive Disease With Immunodeficiency	Familial Veno-Occlusive Disease With Immunodeficiency
Veno-Occlusive Disease And Immunodeficiency Syndrome	Vodi Syndrome
Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Hypotrichosis

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Adenosine Deaminase Deficiency

Ada Deficiency	Ada-Scid
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Adenosine Deaminase Deficient Severe Combined Immunodeficiency
Scid Due To Ada Deficiency	Severe Combined Immunodeficiency Due To Ada Deficiency
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Ada
Scid Due To Adenosine Deaminase Deficiency

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia	Aase Syndrome
Erythrogenesis Imperfecta	Anemia, Diamond-Blackfan
Congenital Hypoplastic Anemia	Aase-Smith Ii Syndrome
Bds	Blackfan-Diamond Anemia
Congenital Prca	Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Dba	Blackfan - Diamond Syndrome
Chronic Constitutional Pure Red Cell Anaemia	Anemia Diamond Blackfan Type
Anemia Congenital Erythroid Hypoplastic	Aregenerative Anemia Chronic Congenital
Blackfan Diamond Syndrome	Red Cell Aplasia, Pure Hereditary
Aase-Smith Syndrome Ii	Bda
Blackfan Diamond Anemia	Blackfan-Diamond Disease
Blackfan-Diamond Syndrome	Chronic Congenital Agenerative Anemia
Congenital Erythroid Hypoplastic Anemia	Congenital Hypoplastic Anemia Of Blackfan And Diamond
Congenital Pure Red Cell Anemia	Hypoplastic Congenital Anemia
Inherited Erythroblastopenia	Pure Hereditary Red Cell Aplasia
Anemia, Hypoplastic, Congenital	Anemia Hypoplastic Congenital
Fanconi Anemia	Constitutional Aplastic Anemia
Diamond-Blackfan Anemia 1	Aase Smith Syndrome 2
Congenital Red Cell Aplasia	Red Cell Aplasia Of Infants
Pure Red Cell Aplasia Of Infants	Congenital Red Cell Aplastic Anaemia
Congenital Pure Red Cell Anaemia	Congenital Erythroid Hypoplasia
Pearson Marrow-Pancreas Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RMRP	MGD	MGI:97937

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