LMPD Database

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LMP006777

Record overview

LMPD IDLMP006777
Gene ID51360
SpeciesHomo sapiens (Human)
Gene Namemembrane-bound transcription factor peptidase, site 2
Gene SymbolMBTPS2
SynonymsBRESEK; IFAP; KFSD; KFSDX; OLMSX; S2P
Alternate namesmembrane-bound transcription factor site-2 protease; endopeptidase S2P; SREBPs intramembrane protease; keratosis follicularis spinulosa decalvans; membrane-bound transcription factor protease, site 2; sterol regulatory element-binding proteins intramembrane protease
ChromosomeX
Map LocationXp22.12-p22.11
EC Number3.4.24.85
SummaryThis 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]
OrthologsView orthologs and multiple alignments for MBTPS2

Proteins

membrane-bound transcription factor site-2 protease
Refseq ID:NP_056968
Protein GI:7706693
UniProt ID:O43462
mRNA ID:NM_015884
Length:519
RefSeq Status:REVIEWED
MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQ
TLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGA
FVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTI
AYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKV
KHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGFFILLG
GSVLLAANVTLGLWMVTAR