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RMRP gene

Function: - nuclear encoded gene (9p13.3) for long non-coding mitochondrial RNA associated with mitochondrial RNA-processing endoribonuclease (RNase MRP) which cleaves mitochondrial RNA complementary to the light chain of the D loop [1] - TERT interacts with RMRP RNA Pathology: - mutated in cartilage-hair hypoplasia Laboratory: - RMRP gene mutation

General

unclassified gene

Properties

LOCUS: human chromosome-9 113.3 MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

Database Correlations

OMIM 157660

References

  1. OMIM :accession 157660