Symbol
| SHOX2
| contributors: npt/mct/pgu - updated : 25-08-2010
|
HGNC name
| short stature homeobox 2
|
HGNC id
| 10854
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
| germinal mutation
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|  
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haploinsufficient mutation in SHOX2 could likely cause bradycardia and arrhythmia | |
Variant & Polymorphism
|
| |
Candidate gene
| for Cornelia de Lange syndrome |
Marker
Therapy target
| | |
| overexpression in Xenopus embryos results in extensive repression of Nkx2-5 in the developing heart, leading to a reduced cardiac field and aberrant heart formation | |
Shox2-deficiency leads to dysplasia and ankylosis of the temporomandibular joint in mice |