Poly(a) RNA Polymerase, Mitochondrial (MTPAP) ELISA Kit for Human

PAPD1: Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA. Defects in MTPAP are the cause of spastic ataxia autosomal recessive type 4 (SPAX4). A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. Affected individuals exhibit a drastic decrease in poly(A) tail length of representative mitochondrial mRNA transcripts, including COX1 and RNA14 (PubMed:20970105). Belongs to the DNA polymerase type-B-like family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.7.7.19; RNA processing; Transferase

Chromosomal Location of Human Ortholog: 10p11.23

Cellular Component: intracellular membrane-bound organelle; mitochondrion

Molecular Function: ATP binding; identical protein binding; magnesium ion binding; manganese ion binding; polynucleotide adenylyltransferase activity; protein binding; protein homodimerization activity

Biological Process: mRNA polyadenylation; transcription, DNA-dependent

Disease: Spastic Ataxia 4, Autosomal Recessive