DISEASES

Disease-gene associations mined from literature

Literature associating CECR1 and Diamond-Blackfan anemia

CECR1 [ENSP00000382731]

Cat eye syndrome chromosome region, candidate 1; Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.

Synonyms:  CECR1,  CECR1p,  hCECR1,  ADA2,  B4DHM2 ...

Linkouts:  STRING  Pharos  UniProt