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FLASH GENE
Symbol SHROOM1 contributors: mct - updated : 26-10-2011
HGNC name shroom family member 1
HGNC id 24084
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in pulmonary arterial hypertension suggesting a link between SHROOM1 expression and pulmonary arterial smooth muscle cell hypertrophy in pulmonary arterial hypertension (
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • mutated in mouse Shrm causing exencepaly, acrania, facial clefting and spina bifida, all of wich can be attributed to failes neural tube closure