Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

collagen and calcium-binding EGF domain-containing protein 1

The CCBE1 gene encodes a protein which is involved in extracellular matrix regulation and functions as a tumor suppressor. Mutations cause autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome 1.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hennekam lymphangiectasia-lymphedema syndrome 1
CCBE1

References:

1.

Nagase T et. al. (2001) Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.

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2.

Hogan BM et. al. (2009) Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting.

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3.

Connell F et. al. (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

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4.

Alders M et. al. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

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Update: Sept. 26, 2018