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Reviewed July 2014

What is the official name of the CCBE1 gene?

The official name of this gene is “collagen and calcium binding EGF domains 1.”

CCBE1 is the gene's official symbol. The CCBE1 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 CCBE1 gene?

The CCBE1 gene provides instructions for making a protein that is found in the lattice of proteins and other molecules outside the cell (extracellular matrix). The CCBE1 protein is involved in the formation of the lymphatic system, which consists of a network of vessels that transport lymph fluid and immune cells throughout the body. Specifically, the CCBE1 protein helps guide maturation (differentiation) and movement (migration) of immature cells called lymphangioblasts that will eventually form the lining (epithelium) of lymphatic vessels.

How are changes in the CCBE1 gene related to health conditions?

Hennekam syndrome - caused by mutations in the CCBE1 gene

At least 13 mutations in the CCBE1 gene have been found to cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system. Most CCBE1 gene mutations change single protein building blocks (amino acids) in the CCBE1 protein leading to a change in the three-dimensional shape of the protein. The abnormal protein cannot play its role in the formation of the lymphatic vessel epithelium. A poorly formed lymphatic system leads to lymphatic vessels that are abnormally expanded (lymphangiectasia) and are prone to break open (rupture), puffiness or swelling caused by a buildup of fluid (lymphedema), and other features of Hennekam syndrome. CCBE1 gene mutations account for about 25 percent of all cases of Hennekam syndrome.

Where is the CCBE1 gene located?

Cytogenetic Location: 18q21.32

Molecular Location on chromosome 18: base pairs 59,430,939 to 59,697,643

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The CCBE1 gene is located on the long (q) arm of chromosome 18 at position 21.32.

The CCBE1 gene is located on the long (q) arm of chromosome 18 at position 21.32.

More precisely, the CCBE1 gene is located from base pair 59,430,939 to base pair 59,697,643 on chromosome 18.

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

Where can I find additional information about CCBE1?

You and your healthcare professional may find the following resources about CCBE1 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 CCBE1 gene or gene products?

  • collagen and calcium-binding EGF domain-containing protein 1
  • FLJ30681
  • full of fluid protein homolog
  • KIAA1983

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 CCBE1?

acids ; calcium ; cell ; collagen ; differentiation ; domain ; epithelium ; extracellular ; extracellular matrix ; gene ; inherited ; lymph ; lymphatic system ; lymphedema ; malformation ; protein ; rupture ; syndrome

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

See also Understanding Medical Terminology.

References (5 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: July 2014
Published: February 8, 2016