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 ophthalmoacromelic 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.

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.
Genetic Testing Registry - Repository of genetic test information (1 link)
You may also be interested in these resources, which are designed for genetics
professionals and researchers.
PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

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

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
What is DNA?
What is a gene?
How do genes direct the production of proteins?
How can gene mutations affect health and development?
These links provide additional genetics resources that may be useful.
Genetics Education
Human Genome Project
Resources for Genetics Researchers

What glossary definitions help with understanding SMOC1?

basement membranes ; calcium ; differentiation ; embryonic ; gene ; growth factor ; pr
otein ; 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.