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SMOC1

SMOC1

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.

Read more about gene names and symbols on the About page.

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 69,879,387 to 70,032,365

The SMOC1 gene is located on the long (q) arm of chromosome 14 at position 24.2.

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 69,879,387 to base pair 70,032,365 on chromosome 14.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SMOC1?

You and your healthcare professional may find the following resources about SMOC1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SMOC1 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SMOC1?

basement membranes ; calcium ; differentiation ; embryonic ; gene ; growth factor ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: March 2014
Published: July 21, 2014