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:
Related Diseases:
References:
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Connell F et al. (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
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2. |
Alders M et al. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
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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.
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4. |
Hogan BM et al. (2009) Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting.
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5. |
NCBI article
NCBI 147372
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6. |
OMIM.ORG article
Omim 612753
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7. |
Orphanet article
Orphanet ID 220744
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8. |
Wikipedia article
Wikipedia EN (CCBE1)
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Update: Aug. 14, 2020