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Ovarian Kaleidoscope Database (OKdb)

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HPMR

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176557

protein only RNase P catalytic subunit OKDB#: 5530
 Symbols: PRORP Species: human
 Synonyms: MRPP3, KIAA0391  Locus: 14q13.2 in Homo sapiens

For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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link to BioGPS
General Comment
General function
Comment
Cellular localization Mitochondrial
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes POF (premature ovarian failure)
Mutations 1 mutations

Species: human
Mutation name:
type: naturally occurring
fertility: subfertile
Comment: Hochberg, I. et al. (2017) A homozygous variant in mitochondrial RNase P subunit PRORP 799 is associated with Perrault syndrome characterized by hearing loss and primary ovarian 800 insufficiency. bioRxiv DOI: 10.1101/168252
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
Recent Publications
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created: Jan. 2, 2018, 12:42 p.m. by: system   email:
home page:
last update: April 2, 2020, 4:03 p.m. by: hsueh    email:



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