Entity Details

Primary name KLHL24
Entity type gene
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Details

PrimaryID54800
RefseqGene
SymbolKLHL24
Namekelch like family member 24
Chromosome3
Location3q27.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKLH24_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005912 adherens junction
GO:0016567 protein ubiquitination
GO:0030057 desmosome
GO:0030424 axon
GO:0031463 Cul3-RING ubiquitin ligase complex
GO:0043204 perikaryon
GO:0045109 intermediate filament organization
GO:0051865 protein autoubiquitination
GO:2000312 regulation of kainate selective glutamate receptor activity

Diseases

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Disease IDSourceNameDescription
617294 OMIMEpidermolysis bullosa simplex, generalized, with scarring and hair loss (EBSSH)A form of epidermolysis bullosa, a group of mechano-bullous disorders characterized by structural skin fragility, recurrent blister formation and erosion of the skin and mucous membranes occurring spontaneously or after mild trauma. Epidermolysis bullosa simplex is characterized by intraepidermal tissue separation that occurs within the basal keratinocytes at the bottom layer of epidermis. EBSSH is an autosomal dominant epidermolysis bullosa simplex, presenting at birth with extensive skin defects on the extremities, leaving behind hypopigmentation and atrophy with a whirled pattern. Cutaneous fragility and generalized blistering persist during childhood and decrease in adulthood. Adult patients have dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. The disease is caused by variants affecting the gene represented in this entry. Gain-of-function mutations that lead to excessive ubiquitination and degradation of KRT14 result in compromised mechanical integrity of basal keratinocytes. Under this pathological condition, trivial mechanical stress can induce blister formation at the basal layer of skin.