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catenins

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aardvark

aardvark  

A Dictyostelium orthologue of β‐catenin with cytoskeletal and signal transduction roles. See catenin.
APC

APC  

The human gene for adenomatous polyposis coli protein. The gene is a tumour suppressor, and mutations are associated with familial adenomatous polyposis, Gardner's syndrome, etc. and contribute to ...
armadillo

armadillo  

Any of a family of proteins that includes β‐catenin, which forms a multimeric complex with presenilins. These proteins contain an imperfect repeat of ≈42 residues, which forms three alpha helices. ...
armadillo repeat

armadillo repeat  

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A protein–protein interaction motif (42 aa), originally described in the Drosophila β-catenin family protein armadillo. The armadillo repeat-containing proteins can be divided into subfamilies based ...
arrhythmogenic right ventricular dysplasia/cardiomyopathy

arrhythmogenic right ventricular dysplasia/cardiomyopathy  

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(ARVD/ARVC)A range of autosomal dominant disorders in which there is arrhythmia of the right ventricle of the heart and replacement of muscle with fibrous tissue; they are an inherited cause of ...
axin

axin  

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Proteins (axin-1, 862 aa; axin-2, 843 aa) that control dorsoventral patterning by down-regulating β-*catenin to inhibit the Wnt signalling pathway, ventralizing the embryo, and activating a ...
cadherins

cadherins  

Integral transmembrane proteins that form homodimers that are calcium-sensitive links between cells at adherens junctions although they may occasionally form heterodimers. Cadherin-1 (E-cadherin, ...
cri-du-chat syndrome

cri-du-chat syndrome  

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A congenital condition of severe mental retardation associated with an abnormal facial appearance, spasticity, and a characteristic catlike cry in infancy. It results from a chromosomal abnormality ...
dapper

dapper  

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An antagonist of β-*catenin (frodo, 836 aa) that inhibits activation of JNK by dishevelled. Dapper-2 (774 aa) has a different tissue distribution.
desmoid tumour

desmoid tumour  

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A dense connective-tissue tumour with a dangerous propensity for repeated local recurrence after treatment. Intra-abdominal desmoids have an association with familial adenomatous polyposis (FAP).
desmoplakin

desmoplakin  

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Proteins isolated from the urea-soluble plaque region of desmosomes. Desmoplakin 1 (DSP1, 2871 aa) is found in all desmosomes; DSP-2 is a smaller splice variant found in stratified epithelia. They ...
Disheveled

Disheveled  

A transduction component of Wnt/Frizzled signalling, that protects β‐catenin against phosphorylation and degradation via ubiquitination and proteasomes. See catenin.
Frat proteins

Frat proteins  

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Products of the human homologues of the murine proto-oncogene (frequently rearranged in advanced T-cell lymphomas), originally identified in transplanted tumours of Moloney murine leukaemia virus ...
Naxos disease

Naxos disease  

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An autosomal recessive disorder (palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair) first reported in families on the Greek island of Naxos and due to ...
nectin

nectin  

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1. A protein component of the stalk of mitochondrial ATPase.2. An immunoglobulin-like cell adhesion molecule that is calcium-independent and causes adhesion by interaction with other nectin ...
p0071

p0071  

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A protein (plakophilin-4, 1211 aa) of the catenin/*plakophilin family that has ten armadillo repeats. It is mostly localized in epithelial cells at regions of cell–cell contact and may colocalize ...
PAPIN

PAPIN  

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A protein (plakophilin-related armadillo-repeat protein-interacting protein, activated in prostate cancer, AIPC, 2642 aa) with six PDZ domains that is highly expressed in prostate cancer. It ...
pilomatrixoma

pilomatrixoma  

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A firm, circumscribed tumour (epithelioma calcificans of Malherbe), usually in the head and neck area, which feels like a button. Caused in some cases by mutation in the β-*catenin gene.
plakophilins

plakophilins  

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A family of proteins with armadillo repeats found in desmosomal plaques and the cell nucleus. There are at least two isoforms of plakophilin 1, PKP1a (726 aa) and PKP1b (747 aa), the latter located ...
presenilin

presenilin  

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A family of multi-pass transmembrane proteins (467 aa) that are localized to the nuclear envelope and are the catalytic aspartyl peptidase core of γ-*secretase, but also interact with catenins. In ...

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