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SMOC1 gene

SPARC related modular calcium binding 1
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Normal Function

The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts.

Health Conditions Related to Genetic Changes

Ophthalmo-acromelic syndrome

At least 12 mutations in the SMOC1 gene have been found to cause ophthalmo-acromelic syndrome, a condition that results in malformations of the eyes, hands, and feet. Most of these mutations likely result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the signs and symptoms of ophthalmo-acromelic syndrome.

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Coloboma

MedlinePlus Genetics provides information about Coloboma

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Other Names for This Gene

  • secreted modular calcium-binding protein 1
  • SMOC1_HUMAN
  • SPARC-related modular calcium-binding protein 1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. Am J Hum Genet. 2011 Jan 7;88(1):92-8. doi: 10.1016/j.ajhg.2010.12.002. Epub 2010 Dec 30. Citation on PubMed or Free article on PubMed Central
  • Choi YA, Lim J, Kim KM, Acharya B, Cho JY, Bae YC, Shin HI, Kim SY, Park EK. Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation. J Proteome Res. 2010 Jun 4;9(6):2946-56. doi: 10.1021/pr901110q. Citation on PubMed
  • Klemenčič M, Novinec M, Maier S, Hartmann U, Lenarčič B. The heparin-binding activity of secreted modular calcium-binding protein 1 (SMOC-1) modulates its cell adhesion properties. PLoS One. 2013;8(2):e56839. doi: 10.1371/journal.pone.0056839. Epub 2013 Feb 21. Citation on PubMed or Free article on PubMed Central
  • Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30. Citation on PubMed or Free article on PubMed Central
  • Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7. Erratum in: PLoS Genet. 2018 Dec 26;14(12):e1007866. Citation on PubMed or Free article on PubMed Central
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