Description

The RMRP gene (RNA component of mitochondrial RNA processing endoribonuclease) [HGNC Gene ID:10031] is located on chromosome 9p13.3. 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] [NCBI Gene ID:6023] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
RMRP gene
Part Display Name
RMRP gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-17
Construct for LOINC Short Name
RMRP

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208412-9

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)RMRP 基因
Synonyms: 线粒体 RNA 加工核糖核酸内切酶 RNA 组分;软骨-毛发发育不良综合征;软骨-毛发发育不良;RNA Component Of Mitochondrial RNA Processing Endoribonuclease;Cartilage-Hair Hypoplasia;RMRPR;RRP2;NME1;CHH
es-ESSpanish (Spain)Gen RMRP
it-ITItalian (Italy)Gene RMRP
nl-NLDutch (Netherlands)RMRP-gen
Synonyms: RMRP gen
fr-FRFrench (France)RMRP gène
pl-PLPolish (Poland)RMRP gen
Synonyms: Gen RMRP
el-GRGreek (Greece)Γονίδιο RMRP
Synonyms: Γονίδιο RMRP