DISEASES

Disease-gene associations mined from literature

Literature associating CANT1 and spondyloepiphyseal dysplasia with congenital joint dislocations

CANT1 [ENSP00000307674]

Putative NF-kappa-B-activating protein 107; Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis.

Synonyms:  CANT1,  CANT1p,  hCANT1,  A0A024R8U8,  K7EIP9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM