Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | SBDS | contributors: mct - updated : 25-11-2020 |
HGNC name | SBDS ribosome maturation factor |
HGNC id | 19440 |
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ASSOCIATED DISORDERS |
corresponding disease(s) | SDS1 |
Susceptibility | to acquired aplastic anemia (AA) |
Variant & Polymorphism other | heterozygosity for the 258 + 2 T>C SBDS mutation predisposes to AA by accelerating telomere shortening of leukocytes via a telomerase-independent mechanism |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |