Membrane bound transcription factor peptidase, site 2

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Membrane bound transcription factor peptidase, site 2 is a protein that in humans is encoded by the MBTPS2 gene. [1]

Function

This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009].

References

  1. "Entrez Gene: Membrane bound transcription factor peptidase, site 2". Retrieved 2018-04-04.

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.