MRPL44 Chromosome 2
Mitochondrial ribosomal protein L44
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What This Gene Does
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]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
2q36.1
Ensembl
ENSG00000135900
Associated Conditions (3)
Inborn genetic diseases
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Key Variants
RS113782060
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200121671
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369491695
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS761343107
Likely pathogenic
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Health Risk
RS1574796091
Pathogenic
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Health Risk
RS2106116608
Pathogenic
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Health Risk
RS143697995
Pathogenic/Likely pathogenic
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113782060 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200121671 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369491695 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761343107 | Health Risk | Likely pathogenic | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
| RS1574796091 | Health Risk | Pathogenic | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| RS2106116608 | Health Risk | Pathogenic | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
| RS143697995 | Health Risk | Pathogenic/Likely pathogenic | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |