MTPAP

Chr 10

mitochondrial poly(A) polymerase

Also known as: PAPD1, SPAX4, TENT6

NCBI Gene: 55149 ENSG00000107951 UniProt: Q9NVV4

The protein is a polymerase that creates the 3' poly(A) tail of mitochondrial transcripts and is involved in replication-dependent histone mRNA degradation. Mutations cause spastic ataxia 4, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.193), suggesting that biallelic variants are required for disease.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic ataxia 4, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

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Mechanism

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GeneReview available — MTPAP