Aliases for SMOC1 Gene
External Ids for SMOC1 Gene
Previous GeneCards Identifiers for SMOC1 Gene
This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
GeneCards Summary for SMOC1 Gene
SMOC1 (SPARC Related Modular Calcium Binding 1) is a Protein Coding gene. Diseases associated with SMOC1 include Microphthalmia With Limb Anomalies and Anophthalmos With Limb Anomalies. GO annotations related to this gene include calcium ion binding and extracellular matrix binding. An important paralog of this gene is SMOC2.
UniProtKB/Swiss-Prot for SMOC1 Gene
Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.