DISEASES

Disease-gene associations mined from literature

Literature associating ALX1 and spina bifida

ALX1 [ENSP00000315417]

Cartilage homeoprotein 1; Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes. Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival. May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1; Belongs to the paired homeobox family.

Synonyms:  ALX1,  ALX1p,  hALX1,  HEL23,  Q15699 ...

Linkouts:  STRING  Pharos  UniProt  OMIM