CECR5 Recombinant Rabbit Monoclonal Antibody [JE64-76] (HA721120)

UNIPROT #

Q9BXW7

PROTEIN NAME

CECR5

SYNONYMS

A930002G03Rik antibody;Cat eye syndrome chromosome region, candidate 5 antibody;Cat eye syndrome chromosome region, candidate 5 homolog antibody;Cat eye syndrome critical region protein 5 antibody;Cecr5 antibody;CECR5_HUMAN antibody;MGC25951 antibody;OTTMUSP00000025905 antibody

SUBCELLULAR LOCATION

Mitochondrion.

FUNCTION

Adenosine deaminase is an enzyme that is present in most tissues and exists predominantly as a monomer, although in some tissues it is associated with adenosine deaminase-binding protein. Adenosine deaminase degrades extracellular adenosine, which is toxic for lymphocytes. A novel family of growth factors that share sequence similarity to adenosine deaminase has been identified. The cat eye syndrome critical region protein (CECR) family includes CECR1, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8 and CECR9. The genes encoding CECR proteins are candidates for Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. CES is characterized by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. CECR family members are widely expressed. Specifically, CECR1 has the highest expression in adult heart, lung, lymphoblasts and placenta. CECR2 is also involved in neurulation and chromatin remodeling. Mutations in the CECR2 gene result in neural tube defects.