SPARC Related Modular Calcium Binding 1 (SMOC1) ELISA Kit for Human

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]

SMOC1: Plays essential roles in both eye and limb development. Probale regulator of osteoblast differentiation. Defects in SMOC1 are the cause of ophthalmoacromelic syndrome (OAS). A rare disorder presenting with anophthalmia or microphthalmia and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and olygodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 14q24.2

Cellular Component: basement membrane

Molecular Function: protein binding; extracellular matrix binding; calcium ion binding

Biological Process: limb development; extracellular matrix organization and biogenesis; eye development; regulation of osteoblast differentiation; cell differentiation; signal transduction

Disease: Microphthalmia With Limb Anomalies