DAP3 Chromosome 1
Death associated protein 3
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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 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
Mitochondrial ribosomal proteins
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000132676
Associated Conditions (4)
See cases
DAP3-related disorder
Perrault syndrome 1
Perrault syndrome 7
Key Variants
RS1660001313
Likely pathogenic
See cases, DAP3-related disorder, See cases
Health Risk
RS536103220
Pathogenic/Likely pathogenic
Perrault syndrome 1, Perrault syndrome 7, Perrault syndrome 1
Health Risk
RS781562698
Pathogenic/Likely pathogenic
Perrault syndrome 1, Perrault syndrome 7, Perrault syndrome 1
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1660001313 | Health Risk | Likely pathogenic | See cases, DAP3-related disorder, See cases |
| RS536103220 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 1, Perrault syndrome 7, Perrault syndrome 1 |
| RS781562698 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 1, Perrault syndrome 7, Perrault syndrome 1 |