TRMT10C gene

tRNA methyltransferase 10C, mitochondrial RNase P subunit

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

From NCBI Gene:

This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]

From UniProt:

Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/RG9MTD1, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends.

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 30

From UniProt:

Combined oxidative phosphorylation deficiency 30 (COXPD30): An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV. [MIM:616974]

Cytogenetic Location: 3q12.3, which is the long (q) arm of chromosome 3 at position 12.3

Molecular Location: base pairs 101,561,836 to 101,566,446 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q12.3, which is the long (q) arm of chromosome 3 at position 12.3
  • COXPD30
  • HNYA
  • MRPP1
  • RG9MTD1