{{위키데이터 속성 추적}}
{{유전자 정보}}
'''콜라겐 및 칼슘 결합 EGF 도메인 함유 단백질 1'''(Collagen and calcium-binding EGF domain-containing protein 1)은 인간의 ''CCBE1'' 유전자에 암호화 된 [[단백질]]이다.<ref name="entrez">{{웹 인용|url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=147372|제목=Entrez Gene: collagen and calcium binding EGF domains 1|확인날짜=}}</ref><ref name="pmid11853319">{{저널 인용|제목=Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins|저널=DNA Res.|url=|날짜=December 2001|권=8|호=6|쪽=319–27|doi=10.1093/dnares/8.6.319|pmid=11853319}}</ref>

== 기능 ==
CCBE1은 [[림프계통|림프계]]의 발달과 성장을 조절자이다. CCBE1은 림프계<ref name="pmid9162011">{{저널 인용|제목=Hyperplasia of Lymphatic Vessels in VEGF-C Transgenic Mice|저널=Science|성=Jeltsch|이름=Michael|성2=Kaipainen|이름2=Arja|날짜=1997|권=276|호=5317|쪽=1423–25|doi=10.1126/science.276.5317.1423|pmid=9162011|성3=Joukov|이름3=Vladimir|성4=Meng|이름4=Xiaojuan|성5=Lakso|이름5=Merja|성6=Rauvala|이름6=Heikki|성7=Swartz|이름7=Melody|성8=Fukumura|이름8=Dai|성9=Jain|이름9=Rakesh K.}}</ref>의 주요 성장 인자인 ADAMTS3<ref name="pmid24552833">{{저널 인용|제목=CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3-Mediated Vascular Endothelial Growth Factor-C Activation|저널=Circulation|성=Jeltsch|이름=Michael|성2=Jha|이름2=Sawan Kumar|날짜=2014|권=129|호=19|쪽=1962–71|doi=10.1161/CIRCULATIONAHA.113.002779|pmid=24552833|성3=Tvorogov|이름3=Denis|성4=Anisimov|이름4=Andrey|성5=Leppänen|이름5=Veli-Matti|성6=Holopainen|이름6=Tanja|성7=Kivelä|이름7=Riikka|성8=Ortega|이름8=Sagrario|성9=Kärpanen|이름9=Terhi}}</ref>에 의한 VEGF-C의 단백질 활성화에 필요하다.

== 임상적 의의 ==
제 1형 Hennekam 증후군(인간에서 일반화된 림프성 이형성증)은 CCBE1 유전자의 돌연변이와 관련이 있다.<ref name="pmid24552833">{{저널 인용|제목=CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3-Mediated Vascular Endothelial Growth Factor-C Activation|저널=Circulation|성=Jeltsch|이름=Michael|성2=Jha|이름2=Sawan Kumar|날짜=2014|권=129|호=19|쪽=1962–71|doi=10.1161/CIRCULATIONAHA.113.002779|pmid=24552833|성3=Tvorogov|이름3=Denis|성4=Anisimov|이름4=Andrey|성5=Leppänen|이름5=Veli-Matti|성6=Holopainen|이름6=Tanja|성7=Kivelä|이름7=Riikka|성8=Ortega|이름8=Sagrario|성9=Kärpanen|이름9=Terhi}}</ref><ref name="pmid19935664">{{저널 인용|제목=Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans|저널=Nat. Genet.|url=|날짜=December 2009|권=41|호=12|쪽=1272–4|doi=10.1038/ng.484|pmid=19935664}}</ref>

== 각주 ==
{{각주}}

== 추가 자료 ==
{{참고 자료 시작|2}}
*{{저널 인용|제목=Collagen and calcium-binding EGF domains 1 is frequently inactivated in ovarian cancer by aberrant promoter hypermethylation and modulates cell migration and survival|저널=Br. J. Cancer|연도=2010|권=102|호=1|쪽=87–96|doi=10.1038/sj.bjc.6605429|pmc=2813742|pmid=19935792|저자표시=etal}}
*{{저널 인용|제목=Multilocus analysis of GAW15 NARAC chromosome 18 case-control data|저널=BMC Proceedings|연도=2007|권=1 Suppl 1|쪽=S11|doi=10.1186/1753-6561-1-S1-S11|pmc=2367534|pmid=18466450}}
*{{저널 인용|제목=Complete sequencing and characterization of 21,243 full-length human cDNAs|저널=Nat. Genet.|연도=2004|권=36|호=1|쪽=40–5|doi=10.1038/ng1285|pmid=14702039|저자표시=etal}}
*{{저널 인용|제목=Molecular Genetics of Successful Smoking Cessation: Convergent Genome-Wide Association Study Results|저널=Arch. Gen. Psychiatry|연도=2008|권=65|호=6|쪽=683–93|doi=10.1001/archpsyc.65.6.683|pmc=2430596|pmid=18519826|저자표시=etal}}
*{{저널 인용|제목=Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting|저널=Nat. Genet.|연도=2009|권=41|호=4|쪽=396–8|doi=10.1038/ng.321|pmid=19287381|저자표시=etal}}
*{{저널 인용|제목=The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment|저널=Genome Res.|연도=2003|권=13|호=10|쪽=2265–70|doi=10.1101/gr.1293003|pmc=403697|pmid=12975309|저자표시=etal}}
*{{저널 인용|제목=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences|저널=Proc. Natl. Acad. Sci. U.S.A.|연도=2002|권=99|호=26|쪽=16899–903|doi=10.1073/pnas.242603899|pmc=139241|pmid=12477932|저자표시=etal}}
*{{저널 인용|제목=Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia|저널=Hum. Genet.|url=http://openaccess.sgul.ac.uk/107128/1/CCBE1%20submitted.pdf|연도=2010|권=127|호=2|쪽=231–41|doi=10.1007/s00439-009-0766-y|pmid=19911200|저자표시=etal}}
{{참고 자료 끝}}

[[분류:인간 18번 염색체상 유전자]]