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FLASH GENE

Symbol

ABL1

contributors: mct/shn - updated : 16-07-2016

HGNC name	c-abl oncogene 1, receptor tyrosine kinase
HGNC id	76

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BCR-ABL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         in chronic myelogenous leukemia cells, silenced by promoter methylation tumoral fusion translocation     translocation t(22;9)(q11;q34)and fusion with NUP214 in T-cell acute lymphoblastic leukemia tumoral fusion       EML1-ABL1 fusion due to a cryptic t(9;14)(q34;q32), in T-cell acute lymphoblastic leukemia (ALL) tumoral fusion       fusion gene involving ABL1 and NUP214, in T-cell acute lymphoblastic leukemia (T-ALL) tumoral fusion       BCR-ABL1 and ETV6-ABL1 in T-cell acute lymphoblastic leukemia tumoral fusion       with SFPQ in t(1;9)(p34;q34) and B cell progenitor acute lymphoid leukemia tumoral fusion       fusion gene SNX2-ABL1 in a pediatric case of acute lymphoblastic leukemia (ALL), arising from a t(5;9)(q22;q34) translocation

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   ABL1 fusion proteins are sensitive to tyrosine kinase inhibitors, which can be included in future treatment strategy neurology neurodegenerative Parkinson/dementia Parkinsonism inhibition of ABL1 may be a neuroprotective approach in the treatment of Parkinson disease

ANIMAL & CELL MODELS

	mice homozygous for the c-abl mutation became runted and died 1 to 2 weeks after birth (
	mice homozygous for the c-abl mutation are severely affected, displaying increased perinatal mortality, runtedness, and abnormal spleen, head, eye development, and major reductions in B cell progenitors (
	Abl-/- mice are osteoporotic with long bones containing thinner cortical bone and reduced trabecular bone volume (
	c-Abl deficiency result in a broad spectrum of defects in cell response to genotoxic stress, including activation of Chk1 and Chk2, activation of p53, nuclear foci formation, apoptosis, and DNA repair (