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FLASH GENE
Symbol SIX2 contributors: mct - updated : 13-10-2015
HGNC name SIX homeobox 2
HGNC id 10888
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation     loss of function
is a potential congenital cause of anterior cranial base defects in humans
constitutional       loss of function
of SIX2 and BMP4, could affect kidney development at multiple stages, leading to the congenital anomalies observed in patients with renal hypodysplasia
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Six2-null newborn mice display premature fusion of the bones in the cranial base