Plays essential roles in both eye and limb development. Probale regulator of osteoblast differentiation.
Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen.
Involvement in disease
Defects in SMOC1 are the cause of ophthalmoacromelic syndrome (OAS) [MIM:206920]. 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.