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FLASH GENE
Symbol SBDS contributors: mct - updated : 25-11-2020
HGNC name SBDS ribosome maturation factor
HGNC id 19440
ASSOCIATED DISORDERS
corresponding disease(s) SDS1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
results in abnormal accumulation of Fas at the plasma membrane, where it sensitizes the cells to stimulation by Fas ligand
constitutional       loss of function
SBDS loss causes a reduction in ATP and lactate levels, and increased susceptibility to DNA damage
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
ANIMAL & CELL MODELS