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FB2025_05
,
released December 11, 2025
Human mutations in all three subunits of the mitochondrial ribonuclease P complex cause mitochondrial disease. This report describes combined oxidative phosphorylation deficiency 54 (COXPD54), which is associated with the human gene PRORP (also known as MRPP3). COXPD54 exhibits autosomal recessive inheritance. There is a single orthologous gene in Drosophila, Dmel\mldr, for which multiple genetic reagents have been generated, including classical missense mutations, RNAi-targeting and overexpression constructs, and a CRISPR/Cas9-mediated knockout construct.
The human PRORP gene has not been introduced into flies.
Using tissue-specific RNAi knockdown, effects of reduced levels of Dmel\mldr in skeletal and heart muscle have been assessed. Reduction in skeletal muscle decreases adult eclosion and causes reduced muscle mass and function; adult flies exhibit age-progressive locomotor defects. Reduction in cardiac muscle results in phenotypes of impaired contractility and significant arrhythmia in adult hearts.
See also the FlyBase gene group report for MITOCHONDRIAL RNASE P COMPLEX (FBgg0001674).
[Updated Jun. 2022 by FlyBase; FBrf0222196]
Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by Smits et al., 2011; pubmed:21119709). [from MIM:609060; 2021.04.17]
[COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54](https://omim.org/entry/619737)
[PROTEIN ONLY RNASE P CATALYTIC SUBUNIT; PRORP](https://omim.org/entry/609947)
Combined oxidative phosphorylation deficiency-54 (COXPD54) is an autosomal recessive disorder with pleiotropic multisystem presentations resulting from a disruption in mitochondrial transcription and translation. The phenotype is highly variable. Many patients have early-onset sensorineural hearing loss, sometimes in isolation, and sometimes associated with global developmental delay or primary ovarian failure. Other features may include peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging (summary by Hochberg et al., 2021; pubmed:34715011). [from MIM:619737; 2022.06.14]
Combined oxidative phosphorylation deficiency-54 (COXPD54) is caused by homozygous or compound heterozygous mutation in the PRORP gene. [from MIM:619737; 2022.06.14]
PRORP encodes the catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5' ends. [Gene Cards, PRORP; 2022.06.14]
One to one: 1 human gene to 1 Drosophila gene.
High-scoring ortholog of human PRORP (1 Drosophila to 1 human).