Gene:
reticulocalbin 2, EF-hand calcium binding domain
Gene ID:
207008
Symbol:
RCN2
Species:
1000
Description:
Reticulocalbin 2 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. The RCN2 gene maps to the same region as type 4 Bardet-Biedl syndrome (MIM:600374), suggesting a possible causative role for reticulocalbin 2 in the disorder.