Aliases for CALB1 Gene
External Ids for CALB1 Gene
Previous HGNC Symbols for CALB1 Gene
Previous GeneCards Identifiers for CALB1 Gene
The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]
GeneCards Summary for CALB1 Gene
CALB1 (Calbindin 1) is a Protein Coding gene. Diseases associated with CALB1 include huntington disease and temporal lobe epilepsy. Among its related pathways are Endocrine and other factor-regulated calcium reabsorption and Transcription_Role of VDR in regulation of genes involved in osteoporosis. GO annotations related to this gene include calcium ion binding and vitamin D binding. An important paralog of this gene is SCGN.
UniProtKB/Swiss-Prot for CALB1 Gene
Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3,5-cyclic nucleotide phosphodiesterase.