Gene: [22q11/ARVCF] armadillo repeat gene deleted in VCFS;
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SUM |
ARVCF encodes a 962-amino acid protein that contains 2 motifs involved in protein-protein interactions: a coiled coil domain near the N terminus and 10 tandem armadillo repeats in the central region. Comparison of the ARVCF sequence with protein databases showed that the structure of ARVCF is most closely related to the catenin family (FAM:CDH/00.0). Members of this family play important roles in the formation of adherens junction complexes. These data suggest that ARVCF is involved in protein-protein interactions at adherens junctions. Unlike other catenin family members, ARVCF contains a nuclear localization signal (NLS), suggesting that ARVCF functions as a nuclear protein." |
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REF |
COD,FAG "Sirotkin H &: Genomics, 41, N1, 75-83, 1997a LOC "Sirotkin H &: Genomics, 42, N2, 245-251, 1997b |
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CLA |
coding, basic |
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LOC |
22 q11 |
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MIM |
MIM: 602269 |
