SMOC1 Antibody – Mouse Monoclonal

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]

Function: Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation. Ref.6 Ref.7 Ref.8

Subcellular location: Secreted › extracellular space › extracellular matrix › basement membrane. Note: In or around the basement membrane. Ref.1 Ref.6

Tissue specificity: Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen. Ref.1

Post-translational modification: Glycosylated. Ref.1

Involvement in disease: Ophthalmoacromelic syndrome (OAS) [MIM:206920]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8 Ref.9 Ref.10

Sequence similarities: Contains 2 EF-hand domains.Contains 1 Kazal-like domain.Contains 2 thyroglobulin type-1 domains.