QuickView for KLHL24;jsessionid=3D4D7746C6F752CE93DDD7660CDE2C41 (gene)

Gene Symbol:

KLHL24 Homo sapiens

Full name:

kelch like family member 24

Synonyms:

DRE1, EBSSH, KRIP6, kelch-like protein 24, kainate receptor interacting protein for GluR6, kelch-like 24

Genomic Location:

Chr 3: 184836105-184885001

Description:

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 incr...

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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 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RTAAACA_FREAC2_01 ,  TTANTCA_UNKNOWN ,  TCANNTGAY_SREBP1_01 ,  NFAT_Q6 ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  SREBP1_01 ,  FREAC3_01 ,  CAGGTG_E12_Q6 ,  CTCAGGG_MIR125B_MIR125A ,  TGCCTTA_MIR124A ,  GGGCGGR_SP1_Q6 ,  ATGTTAA_MIR302C ,  ACTAYRNNNCCCR_UNKNOWN ,  AAAGACA_MIR511 ,  PTF1BETA_Q6 ,  GTGCCTT_MIR506 ,  FREAC2_01 ,  TTGTTT_FOXO4_01 ,  CTTTGT_LEF1_Q2 ,  RRCCGTTA_UNKNOWN ,  FOXO4_02

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Cytogenetic Map:

3q27.1

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