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GlossaryDDB1 and CUL4 associated factor 17

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 To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders

43 citations, January 2014 in “Seminars in Cell & Developmental Biology”

Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.

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 Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods

1 citations, August 2021 in “Canadian journal of neurological sciences”

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

3 citations, December 2021 in “Frontiers in endocrinology”

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

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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