PRORP Chromosome 14
Protein only RNase P catalytic subunit
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What This Gene Does
Enables ribonuclease P activity. Involved in mitochondrial tRNA 5'-end processing. Located in mitochondrion and nucleoplasm. Part of mitochondrial ribonuclease P complex. Implicated in combined oxidative phosphorylation deficiency 54. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Mitochondrial RNase P complex|Pentatricopeptide repeat containing"
Locus Type
gene with protein product
Location
14q13.2
Ensembl
ENSG00000100890
Associated Conditions (7)
Childhood onset sensorineural hearing impairment
Combined oxidative phosphorylation deficiency 54
PRORP-related disorder
Perrault syndrome 1
6 conditions
Lactic acidosis
Leukoencephalopathy
Key Variants
RS144536804
Conflicting classifications of pathogenicity
Childhood onset sensorineural hearing impairment, Combined oxidative phosphorylation deficiency 54, PRORP-related disorder
Health Risk
RS149121781
Conflicting classifications of pathogenicity
Health Risk
RS776645614
Conflicting classifications of pathogenicity
Health Risk
RS1169927428
Pathogenic/Likely pathogenic
Perrault syndrome 1, Combined oxidative phosphorylation deficiency 54, Perrault syndrome 1
Health Risk
RS759407337
Pathogenic/Likely pathogenic
Combined oxidative phosphorylation deficiency 54, Combined oxidative phosphorylation deficiency 54
Health Risk
RS764714439
Pathogenic/Likely pathogenic
6 conditions, Combined oxidative phosphorylation deficiency 54, Childhood onset sensorineural hearing impairment
Health Risk
RS777185638
Pathogenic/Likely pathogenic
6 conditions, Combined oxidative phosphorylation deficiency 54, Childhood onset sensorineural hearing impairment
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144536804 | Health Risk | Conflicting classifications of pathogenicity | Childhood onset sensorineural hearing impairment, Combined oxidative phosphorylation deficiency 54, PRORP-related disorder |
| RS149121781 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776645614 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1169927428 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 1, Combined oxidative phosphorylation deficiency 54, Perrault syndrome 1 |
| RS759407337 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 54, Combined oxidative phosphorylation deficiency 54 |
| RS764714439 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Combined oxidative phosphorylation deficiency 54, Childhood onset sensorineural hearing impairment |
| RS777185638 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Combined oxidative phosphorylation deficiency 54, Childhood onset sensorineural hearing impairment |