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Article

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

American journal of human genetics - 1 Apr 2009

Oeffner Frank, Fischer Gayle, Happle Rudolf, König Arne, Betz Regina C, Bornholdt Dorothea, Neidel Ulrike, Boente María del Carmen, Redler Silke, Romero-Gomez Javier, Salhi Aïcha, Vera-Casaño Angel, Weirich Christian, Grzeschik Karl-Heinz

Abstract excerpt

Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) is a rare X-linked, oculocutaneous human disorder. Here, we assign the IFAP locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations exchanging highly conserved amino acids of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype. MBTPS2, a...

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Source

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Identifiers

PMID: 19361614
DOI: 10.1016/j.ajhg.2009.03.014
PMCID: PMC2667992

Genes

MBTPS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.PMID 19361614Read ↗

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.Semantic proximity Read ↗

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.Semantic proximity Read ↗

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.Semantic proximity Read ↗

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.Semantic proximity Read ↗

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.Semantic proximity Read ↗

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A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype.Semantic proximity Read ↗

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