MRPL44 gene

mitochondrial ribosomal protein L44

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

From NCBI Gene:

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

From UniProt:

Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 16

From UniProt:

Combined oxidative phosphorylation deficiency 16 (COXPD16): An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. [MIM:615395]

Cytogenetic Location: 2q36.1, which is the long (q) arm of chromosome 2 at position 36.1

Molecular Location: base pairs 223,943,224 to 223,967,714 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q36.1, which is the long (q) arm of chromosome 2 at position 36.1
  • COXPD16
  • L44MT
  • MRP-L44