Aliases for CECR1 Gene
External Ids for CECR1 Gene
Previous HGNC Symbols for CECR1 Gene
Previous GeneCards Identifiers for CECR1 Gene
This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GeneCards Summary for CECR1 Gene
CECR1 (Cat Eye Syndrome Chromosome Region, Candidate 1) is a Protein Coding gene. Diseases associated with CECR1 include Sneddon Syndrome and Polyarteritis Nodosa, Childhood-Onset. Among its related pathways are Transport to the Golgi and subsequent modification and Surfactant metabolism. GO annotations related to this gene include protein homodimerization activity and heparin binding.
UniProtKB/Swiss-Prot for CECR1 Gene
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.