SMOC1

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.

Full Name

SPARC Related Modular Calcium Binding 1

Function

Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.

Biological Process

Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process extracellular matrix organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process eye developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process limb developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of osteoblast differentiationManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Secreted, extracellular space, extracellular matrix, basement membrane
In or around the basement membrane.

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.

PTM

Glycosylated.