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FLASH GENE

Symbol

MSX1

contributors: mct/npt/pgu - updated : 11-07-2023

HGNC name	msh homeobox 1
HGNC id	7391

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FTA1 , OFC5 , ECTD3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in Wolf-Hirschhorn syndrome, cleft lip and palate constitutional       loss of function inactivation of its repressive activity may be one cause of Wormian bones, ectopic bones that are a feature of a variety of pathological conditions in which calvarial bone development is compromised

Susceptibility

to nonsyndromic orofacial clefts

Variant & Polymorphism other	allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Msx1 knck-out mouse
	Msx1;Msx2 double mutants are characterized by the loss of derivatives of the anterior limb mesoderm which is not observed in either of the simple mutants