MTPAP

Description

The MTPAP (mitochondrial poly(A) polymerase) is a protein-coding gene located on chromosome 10.

MTPAP is a polymerase responsible for adding a poly(A) tail to the 3' end of mitochondrial transcripts. It exhibits a preference for ATP and UTP in vitro and contributes to the degradation of histone mRNA during replication. MTPAP may also be involved in the addition of uridines to mature histone mRNAs prior to their degradation and could be responsible for the formation of some UAA stop codons that are not encoded in the mitochondrial DNA.

MTPAP is also known as PAPD1, SPAX4, TENT6.

Associated Diseases

• Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
• Spastic ataxia 4, autosomal recessive