Reviewed March 2014
What is the official name of the SMOC1 gene?
The official name of this gene is “SPARC related modular calcium binding 1.”
SMOC1 is the gene's official symbol. The SMOC1 gene is also known by other names, listed below.
What is the normal function of the SMOC1 gene?
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.
How are changes in the SMOC1 gene related to health conditions?
- ophthalmo-acromelic syndrome - caused by mutations in the SMOC1 gene
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.
Where is the SMOC1 gene located?
Cytogenetic Location: 14q24.2
Molecular Location on chromosome 14: base pairs 69,879,388 to 70,032,366
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/64093))
The SMOC1 gene is located on the long (q) arm of chromosome 14 at position 24.2.
More precisely, the SMOC1 gene is located from base pair 69,879,388 to base pair 70,032,366 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about SMOC1?
You and your healthcare professional may find the following resources about SMOC1 helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SMOC1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=64093%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28SMOC1%5BTIAB%5D%29%20OR%20%28SPARC%20related%20modular%20calcium%20binding%201%5BTIAB%5D%29%29%20OR%20%28secreted%20modular%20calcium-binding%20protein%201%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/608488)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SMOC1.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=20318)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64093)
What other names do people use for the SMOC1 gene or gene products?
- secreted modular calcium-binding protein 1
- SPARC-related modular calcium-binding protein 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SMOC1?
basement membranes ;
growth factor ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/21194680?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20359165?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/23437253?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64093)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/21194678?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/21750680?dopt=Abstract)
- OMIM: SPARC-RELATED MODULAR CALCIUM-BINDING 1 (http://omim.org/entry/608488)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.