rs574670461
This variant is located in the PNPT1 gene.
▶ClinVar annotation
Combined oxidative phosphorylation defect type 13; not provided; Autosomal recessive nonsyndromic hearing loss 70; PNPT1-related disorder; Autosomal recessive nonsyndromic hearing loss 70;Spinocerebellar ataxia type 25;Combined oxidative phosphorylation defect type 13
View on ClinVar →About PNPT1
The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
View all PNPT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…