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FLASH GENE
Symbol HERC2 contributors: mct/pgu - updated : 30-10-2014
HGNC name hect domain and RLD 2
HGNC id 4868
ASSOCIATED DISORDERS
corresponding disease(s) HECD , MRAGI
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
mapped within the commonly deleted PWS/AS region, with multiple duplications at the common breapoints
Susceptibility to blue or brown eye colors
Variant & Polymorphism SNP two SNPs perfectly associated with the blue and brown eye colors
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS