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GlossaryMBTPS2 (MBTPS2 gene)

encodes an enzyme regulating cholesterol and lipid metabolism

MBTPS2 stands for Membrane-Bound Transcription Factor Peptidase, Site 2. It is a gene that encodes an enzyme involved in the regulation of cholesterol and lipid metabolism by activating certain transcription factors. Mutations in the MBTPS2 gene can lead to disorders such as ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome, which affect the skin, hair, and eyes.

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research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome

71 citations , January 2011 in “Orphanet Journal of Rare Diseases”

IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.

research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2

January 2023 in “Revista Paulista de Pediatria”

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

research Ichthyosis Follicularis With Atrichia And Photophobia (IFAP) Syndrome: A Study On Genetic Mutation In A Japanese Patient

January 2011 in “Journal of Human Genetics”

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report

December 2023 in “Clinical Cosmetic and Investigational Dermatology”

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

research A Case of IFAP Syndrome with Severe Atopic Dermatitis

5 citations , January 2015 in “Case reports in medicine”

A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.

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