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FLASH GENE

Symbol

EML1

contributors: mct - updated : 08-06-2022

HGNC name	echinoderm microtubule associated protein like 1
HGNC id	3330

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

OVGRH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       in a T-cell acute lymphoblastic leukemia patient with a cryptic t(9;14)(q34;q32) associated with deletion of CDKN2A (p16) and expression of TLX1 (HOX11) constitutional       loss of function impairs apical progenitor spindle length and soma shape in the developing cerebral cortex

Susceptibility

Variant & Polymorphism

Candidate gene	for USH1A
Marker	EML1 rs10151787 A>G and H4C5 rs2069018 T>C are independent prognostic biomarkers for cutaneous melanoma-specific survival (CMSS)
Therapy target	novel therapeutic target of imatinib, in T- ALL

ANIMAL & CELL MODELS

nonsense mutation in the Eml1 gene in a novel murine model, tvrm360, displaying subcortical heterotopia, hydrocephalus and disorganization of retinal architecture