POLGARF

Chr 15

POLG alternative reading frame

Also known as: ORF-Y

NCBI Gene: 125316803 ENSG00000291307 UniProt: A0A3B3IS91

POLGARF encodes a 260 amino acid protein that may interact with P32 (C1QBP), a mitochondrial matrix protein involved in mitochondrial genome-encoded protein expression, and potentially sequesters P32 in the nucleolus. Some disease-causing mutations previously attributed to POLG may actually be associated with POLGARF, though the specific phenotypes and inheritance pattern for POLGARF mutations remain to be fully characterized. This gene uses an alternate reading frame of the POLG transcript, making it a distinct protein product from POLG isoforms.

ResearchSummary from RefSeq

This gene uses the same transcript as the POLG gene but has a CUG start codon and an alternate reading frame that makes a 260 aa protein. This protein is distinct from POLG isoforms and may interact with P32 (also known as C1QBP), a mitochondrial matrix protein thought to be involved in the expression of mitochondrial genome-encoded proteins. POLGARF protein may bind P32 and sequester it in the nucleolus. Interestingly, some disease-causing mutations thought to be in POLG may instead be associated with POLGARF. [provided by RefSeq, May 2022]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (2)