CCBE1

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CCBE1
Identifiers
Aliases CCBE1, HKLLS1, collagen and calcium binding EGF domains 1
External IDs MGI: 2445053 HomoloGene: 15852 GeneCards: CCBE1
Genetically Related Diseases
major depressive disorder[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_133459

NM_178793

RefSeq (protein)

NP_597716

NP_848908.1
NP_848908

Location (UCSC) Chr 18: 59.43 – 59.7 Mb Chr 18: 66.05 – 66.3 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.[4][5]

Function[edit]

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumor suppressor.[4]

Clinical significance[edit]

Mutation in the CCBE1 gene may be associated with Hennekam syndrome, a generalized lymphatic dysplasia in humans .[6]

References[edit]

  1. ^ "Diseases that are genetically associated with CCBE1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b "Entrez Gene: collagen and calcium binding EGF domains 1". 
  5. ^ Nagase T, Kikuno R, Ohara O (December 2001). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Res. 8 (6): 319–27. doi:10.1093/dnares/8.6.319. PMID 11853319. 
  6. ^ Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nat. Genet. 41 (12): 1272–4. doi:10.1038/ng.484. PMID 19935664. 

External links[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.