adenosine deaminase CECR1; adenosine deaminase 2; cat eye syndrome critical region protein 1 (CECR1, ADA2)

Function

• adenosine deaminase
  • may contribute to the degradation of extracellular adenosine
• role in growth regulation through a adenosine deaminase activity
• role in inflammation & fever
• homodimer
• interacts with adenosine receptors
• binds heparin

Cofactor: binds 1 Zn+2 per subunit

Kinetic parameters:

• KM=2.25 mM for adenosine
• pH dependence:
• optimum pH is 6.6

Structure

• belongs to the adenosine & AMP deaminases family
• PRB domain is involved in receptor binding & may be responsible for the cytokine-like growth factor activity
• high-affinity binding to heparin/glycosaminoclycan (GAG) is mediated by a large, highly positively charged surface at the interface of dimer's subunits involving ~ residues 30-45, 389-396, & 422-428

Compartment

secreted

Alternative splicing

named isoforms=2

Expression

• widely expressed
• most abundant expression in human adult heart, lung, lymphoblasts, placenta & fetal lung, liver, & kidney
• in embryo, expressed in outflow tract & atrium of developing heart, VII/VIII cranial nerve ganglion & notochord

Pathology

• candidate gene for the Cat Eye Syndrome
• mutations resulting in diminished adenosine deaminase activity associated with polyarteritis nodosa, stroke, & other vascular diseases
  • 5 of 9 patients with stroke before age 5
  • recurrent fevers in all

More general terms

• cat eye syndrome critical region protein (CECR)
• adenosine deaminase (adenosine aminohydrolase, ADA)

Additional terms

• cat-eye syndrome

Database

• OMIM: https://mirror.omim.org/entry/607575
• UniProt: http://www.uniprot.org/uniprot/Q9NZK5.html