NCIt synonyms : Kelch Like Family Member 24 wt Allele; FLJ20059; Kelch-Like 24 (Drosophila) Gene; DRE1; EBS6; Kelch-Like 24 Gene; Kainate Receptor Interacting Protein for GluR6 Gene; CMH29; KRIP6; EBSSH;
NCIt definition : Human KLHL24 wild-type allele is located in the vicinity of 3q27.1 and is approximately
49 kb in length. This allele, which encodes kelch-like protein 24, plays a role in
the modulation of kainate receptor signaling and targeting of keratin-14 for ubiquitination
and degradation. A missense mutation in the gene is associated with familial hypertrophic
cardiomyopathy 29 with polyglucosan bodies. Gain of function mutations that lead to
a loss of the autoubiquitination site are associated with generalized intermediate
epidermolysis bullosa simplex 6, with scarring and hair loss, with or without cardiomyopathy.;
OMIM relation