Gene: MRPL33

Alternate names for this Gene: C2orf1|L33mt|MRP-L33|RPL33L

Gene Summary: 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. Alternatively spliced transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.2

Description of this Gene: mitochondrial ribosomal protein L33

Type of Gene: protein-coding

Gene: RBKS

Alternate names for this Gene: RBSK|RK

Gene Summary: This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.2

Description of this Gene: ribokinase

Type of Gene: protein-coding

rs74446114 in MRPL33;RBKS gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs4630723 in MRPL33;RBKS gene and Blood urea nitrogen measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12474906 in MRPL33;RBKS gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs11127129 in MRPL33;RBKS gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.