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

Related Diseases:

Hennekam lymphangiectasia-lymphedema syndrome 1
CCBE1

References:

1.

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

external link
2.

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

external link
3.

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.

external link
4.

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

external link
5.

NCBI article

NCBI 147372 external link
6.

OMIM.ORG article

Omim 612753 external link
7.

Orphanet article

Orphanet ID 220744 external link
8.

Wikipedia article

Wikipedia EN (CCBE1) external link
Update: Aug. 14, 2020
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