CCBE1

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.[5][6]

AliasesCCBE1, HKLLS1, collagen and calcium binding EGF domains 1
End59,697,662 bp[1]
Quick facts Identifiers, Aliases ...
CCBE1
Identifiers
AliasesCCBE1, HKLLS1, collagen and calcium binding EGF domains 1
External IDsOMIM: 612753; MGI: 2445053; HomoloGene: 15852; GeneCards: CCBE1; OMA:CCBE1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_133459

NM_178793

RefSeq (protein)

NP_597716

NP_848908

Location (UCSC)Chr 18: 59.43 – 59.7 MbChr 18: 66.18 – 66.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

Function

CCBE1 is a regulator of the development and growth of the lymphatic system. CCBE1 is necessary for the proteolytic activation of VEGF-C by ADAMTS3,[7] which is the main growth factor for the lymphatic system.[8]

Clinical significance

Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene,[9] and the molecular etiology of the disease has been elucidated.[7]


References

Further reading

Related Articles

Wikiwand AI