Gene: MRPS22

Alternate names for this Gene: C3orf5|COXPD5|GIBT|GK002|MRP-S22|ODG7|RPMS22

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 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq.

Gene is located in Chromosome: 3

Location in Chromosome : 3q23

Description of this Gene: mitochondrial ribosomal protein S22

Type of Gene: protein-coding

rs753345594 in MRPS22 gene and 46, XX Gonadal Sex Reversal PMID 29566152 2018 Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

rs6802174 in MRPS22 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs7642536 in MRPS22 gene and Alopecia, Androgenetic, 1 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs7642536 in MRPS22 gene and Alopecia, Androgenetic, 2 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs7642536 in MRPS22 gene and Alopecia, Androgenetic, 3 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs7642536 in MRPS22 gene and Alopecia, Male Pattern PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs7642536 in MRPS22 gene and Androgenetic Alopecia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs17315501 in MRPS22 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs7638110 in MRPS22 gene and Body mass index PMID 22013104 2012 The former were PAX5 (rs16933812, TFM: P = 9.3 × 10(-9)) and MRPS22 (rs7638110, BMI: P = 4.6 × 10(-8)), and the top ones among the latter (P < 5 × 10(-4)) were MC4R (rs17773430, BMI: P = 5.8 × 10(-6)), FTO (rs9930333, BMI: P = 1.9 × 10(-4)), and MTCH2 (rs7120548, BMI: P = 1.9 × 10(-4)).

rs201337850 in MRPS22 gene and Movement Disorders PMID 21189481 2011 Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

PMID 28752220 2017 A patient with mitochondrial disorder due to a novel mutation in MRPS22.

PMID 25663021 2015 MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 17873122 2007 Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.

rs201337850 in MRPS22 gene and Muscle hypotonia PMID 21189481 2011 Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.

PMID 28752220 2017 A patient with mitochondrial disorder due to a novel mutation in MRPS22.

PMID 25663021 2015 MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

PMID 17873122 2007 Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

rs7638110 in MRPS22 gene and Obesity PMID 22013104 2012 Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.

rs7642536 in MRPS22 gene and Other alopecia PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs112071820 in MRPS22 gene and Ovarian Mucinous Adenocarcinoma PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

rs753345594 in MRPS22 gene and Pure Gonadal Dysgenesis, 46, XX PMID 29566152 2018 Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

rs140701484 in MRPS22 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs140701484 in MRPS22 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.