Disease-gene associations mined from literature

Literature associating MEOX1 and Jervell-Lange Nielsen syndrome

MEOX1 [ENSP00000321684]

Homeobox protein MOX-1; Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints. Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome; HOXL subclass homeoboxes

Synonyms:  MEOX1,  MEOX1p,  hMEOX1,  F8VXS6,  MEOX1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM