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GlossaryDDB1 and CUL4 associated factor 17 (DCAF17)

protein involved in tagging unwanted proteins for degradation

DDB1 and CUL4 associated factor 17, also known as DCAF17, is a protein that plays a role in the regulation of cellular processes by participating in the ubiquitin-proteasome system, which tags unwanted proteins for degradation. Mutations in the DCAF17 gene have been linked to certain forms of alopecia, a condition characterized by hair loss, highlighting its importance in hair follicle biology and maintenance.

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research Woodhouse-Sakati Syndrome: The New Genetic Variant Of DCAF17 In Two Adult Sisters

1 citations , July 2024 in “JCEM Case Reports”

A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations , January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

research Woodhouse-Sakati Syndrome With Unique Unreported Previous Findings

July 2021 in “Scholars Journal of Medical Case Reports”

Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.

research Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review

10 citations , September 2021 in “American Journal of Medical Genetics Part A”

Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.

research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family

4 citations , December 2021 in “Journal of clinical laboratory analysis”

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

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