MTPAP gene

mitochondrial poly(A) polymerase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Ataxia, spastic, 4, autosomal recessive

From UniProt:

Spastic ataxia 4, autosomal recessive (SPAX4): A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. [MIM:613672]

Cytogenetic Location: 10p11.23, which is the short (p) arm of chromosome 10 at position 11.23

Molecular Location: base pairs 30,309,801 to 30,349,338 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p11.23, which is the short (p) arm of chromosome 10 at position 11.23
  • PAPD1
  • SPAX4