SPARC-related modular calcium-binding protein 1
Function
Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.
Involvement in disease
Ophthalmoacromelic syndrome
OAS
A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated.
Tissue Specificity
Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
- Basement membrane
- In or around the basement membrane.
Alternative names
SPARC-related modular calcium-binding protein 1, Secreted modular calcium-binding protein 1, SMOC-1, SMOC1