KLHL24 gene

kelch like family member 24

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]

From UniProt:

Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties.

From NCBI Gene:

  • EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS

Cytogenetic Location: 3q27.1, which is the long (q) arm of chromosome 3 at position 27.1

Molecular Location: base pairs 183,635,117 to 183,684,519 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q27.1, which is the long (q) arm of chromosome 3 at position 27.1
  • DRE1
  • EBSSH
  • KRIP6