KLHL24 (Gene)

Synonyms:DRE1, EBSSH, ENTREZ:54800, HGNC:25947, KLHL24, KRIP6, MIM:611295, NM_001349413, NM_001349414, NM_001349415, NM_001349416, NM_001349417, NM_001349418, NM_001349419, NM_001349420, NM_001349421, NM_001349422, NM_001349423, NM_001349424, NM_001349425, NM_001349426, NM_001349428, NM_001349429, NM_017644, NP_001336342, NP_001336343, NP_001336344, NP_001336345, NP_001336346, NP_001336347, NP_001336348, NP_001336349, NP_001336350, NP_001336351, NP_001336352, NP_001336353, NP_001336354, NP_001336355, NP_001336357, NP_001336358, NP_060114, NR_146169, NR_146170, XM_005247552, XM_017006653, XM_017006655, XM_017006658, XM_017006661, XM_024453607, XP_005247609, XP_016862142, XP_016862144, XP_016862147, XP_016862150, XP_024309375, kelch like family member 24
Omim:OMIM:611295
Id:ENSG00000114796
Hgnc:HGNC:25947
Entrez:54800
Description:kelch like family member 24
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]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View KLHL24's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with KLHL24.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using KLHL24.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for KLHL24.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with KLHL24.

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