KLHL24

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]

Description

Kelch like family member 24

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

3 (183635610 - 183684519)

Ensembl ID

ENSG00000114796  (ver. 103.38)

Orthologs

Mouse Klhl24: ENSMUSG00000062901

UniProt

Q6TFL4

neXtProt

NX_Q6TFL4

Human splice variants
Mouse splice variants

Protein structure