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Cadherin-1 or Epithelial cadherin (E-cadherin), (not to be confused with the APC/C activator protein CDH1) is a protein that in humans is encoded by the CDH1 gene. [5] Mutations are correlated with gastric, breast, colorectal, thyroid, and ovarian cancers. CDH1 has also been designated as CD324 (cluster of differentiation 324).
Conversely, detection of CDH1 mutations is lowest in countries with high rates of gastric cancer, such as Portugal, Italy, and Japan. [8] For this reason, some have pushed for increased genetic screening in countries with high rates of gastric cancer, as the rates may mask the incidence of CDH1 mutations. [9]
In case of a CDH1 (gene) mutation the E-cadherin function can be deregulated, with a decreased cell-cell adhesion and increased cell proliferation, so-called lobular hyperplasia. Subsequently, in case of a second-hit CDH1 (gene) inactivation, E-cadherin protein expression is undetectable and, consequently, it disrupts the organization of the ...
In the N-terminal region at amino acid position 55-61 the cdh1 protein contains a C-Box motif, which is required for the association with the APC/c complex. Especially the residue R56 seems to be important for the binding to APC/c in vitro and Cdh1 function in vivo. [9] [10] Cdh1 contains multiple phosphorylation sites for the kinase cdc28 ...
12560 Ensembl ENSG00000062038 ENSMUSG00000061048 UniProt P22223 P10287 RefSeq (mRNA) NM_001793 NM_001317195 NM_001317196 NM_001037809 NM_007665 RefSeq (protein) NP_001304124 NP_001304125 NP_001784 NP_001032898 NP_031691 Location (UCSC) Chr 16: 68.64 – 68.73 Mb Chr 8: 107.24 – 107.28 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cadherin-3, also known as P-Cadherin, is a protein ...
Together, the disorders caused by PTEN mutations are called PTEN hamartoma tumor syndromes, or PHTS. Mutations responsible for these syndromes cause the resulting protein to be non-functional or absent. The defective protein allows the cell to divide in an uncontrolled way and prevents damaged cells from dying, which can lead to the growth of ...
Cadherin 10 is a protein that in humans is encoded by the CDH10 gene. [5] [6] Clinical significance. An association with autism has been suggested. [7] See also.
Hoyeraal–Hreidasson syndrome [2] is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita.