Plakoblobin

PLAK Locus table - Naxos Disease synopsis


OMIM: 601214

Gene Bank cDNA for Homo Sapiens PLAK: M23410

Protein: AAA6495.1 NCBI: NM_002230

Nucleotide Change

Aminoacid Change

Mutation
Type

Protein Domain

Mutation carriers

Phenotype

References

2157del2 stop@-56 (1) frameshift C-term  19 (12 families) (2)  ARVC+WH+PPK(3) McKoy et al 2000 

(1) The mutation truncates the 13th armadillo repeat of the protein; (2) The phenotype is inherited as autosomal recesive trait; the 19 carriers are homozyous carriers for the disease allele.

(3)ARVC=Arrhythmogenic Right Ventricular Cardiomiopathy:WH=WollyHair: PPK=palmoplantar keratoderma

Genomic clone for PLAK: AC012192