rs966845
This is a protein-altering variant in the PDLIM5 gene.
About PDLIM5
This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
View all PDLIM5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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