KLHL24 (kelch like family member 24)

2014-11-01   Dessen P  

Identity

HGNC
KLHL24
LOCATION
3q27.1
LOCUSID
54800
ALIAS
DRE1,EBSSH,KRIP6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54800
MIM: 611295
HGNC: 25947
Ensembl: ENSG00000114796

Variants:

dbSNP: 54800
ClinVar: 54800
TCGA: ENSG00000114796
COSMIC: KLHL24

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114796ENST00000242810Q6TFL4
ENSG00000114796ENST00000427201C9JMQ9
ENSG00000114796ENST00000437402C9JN72
ENSG00000114796ENST00000454495C9JCK3
ENSG00000114796ENST00000454652Q6TFL4
ENSG00000114796ENST00000468001C9J0A6
ENSG00000114796ENST00000468101C9JQ67
ENSG00000114796ENST00000473045C9JXR5
ENSG00000114796ENST00000476808Q6TFL4
ENSG00000114796ENST00000482138C9J3M5
ENSG00000114796ENST00000493074C9J2N4

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
384742362024EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.0
384742362024EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.0
347402562022Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.3
350313082022Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.4
359756342022A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.1
347402562022Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.3
350313082022Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.4
359756342022A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.1
302265312019Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.3
307153722019Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.23
302265312019Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.3
307153722019Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.23
297792542018Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.10
297792542018Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.10
285327582017The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.12

Citation

Dessen P

KLHL24 (kelch like family member 24)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64968/klhl24-(kelch-like-family-member-24)