KLHL24 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CMH29 - DRE1 - EBS6 - EBSSH - FLJ20059 - KRIP6 - Kainate Receptor Interacting Protein for GluR6 Gene - Kelch Like Family Member 24 wt Allele - Kelch-Like 24 (Drosophila) Gene - Kelch-Like 24 Gene