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GlossaryMembrane-bound transcription factor site-2 protease

enzyme that activates proteins by cutting them in membranes

Membrane-bound transcription factor site-2 protease (S2P) is an enzyme that plays a crucial role in activating certain proteins by cutting them at specific sites within the cell membrane. This process is essential for regulating various cellular functions, including stress responses and cholesterol metabolism. For professionals, S2P is known for its role in the regulated intramembrane proteolysis (RIP) pathway, which is critical for the activation of sterol regulatory element-binding proteins (SREBPs).

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Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies

research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies

October 2023 in “Journal of dermatological science”

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Heterogeneity of Neural Crest-Derived Melanocytes

research Heterogeneity of neural crest-derived melanocytes

8 citations , February 2013 in “Central European Journal of Biology”

Melanocytes are diverse cells important for pigmentation and skin health, influenced by genetics and environment.

Tmprss2: A Key Host Factor In SARS-CoV-2 Infection And Potential Therapeutic Target

research TMPRSS2: A Key Host Factor in SARS-CoV-2 Infection and Potential Therapeutic Target

4 citations , June 2025 in “Medeniyet Medical Journal”

TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.

Recurrent MBTPS2 Variant c.970+5G>A in IFAP Syndrome: A Mutational Hotspot

research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot

April 2026 in “Human Genome Variation”

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

research The Tissue-dependent Keratin 19 Gene Transcription Is Regulated by GKLF/KLF4 and Sp1

119 citations , September 2000 in “Journal of Biological Chemistry”

GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.

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learn ACETYL TETRAPEPTIDE-2

learn octapeptide-2

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