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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54800
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Kelch like family member 24 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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KLHL24 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CMH29, DRE1, EBS6, EBSSH, KRIP6 |
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Chromosome
Chromosome number
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3 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q27.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 protei |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Epidermolysis Bullosa Simplex |
Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss |
rs886037957, rs886037956, rs1057515580 |
N/A |
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Cardiomyopathy |
cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies |
N/A |
N/A |
GenCC |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Hypertrophic cardiomyopathy |
hypertrophic cardiomyopathy |
N/A |
N/A |
GenCC |
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