MBTPS2

GENE INFORMATION

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Gene name

MBTPS2 (HGNC Symbol)

Synonyms

S2P

Description

membrane-bound transcription factor peptidase, site 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

X (Chromosome progress)

Cytoband

p22.11

Chromosome location (bp)

21857754 - 21903542

Ensembl

ENSG00000012174 (version 73.37)

Entrez gene

51360

UniProt

O43462 (UniProt - Evidence at protein level)

neXtProt

NX_O43462

Antibodypedia

MBTPS2 antibodies
 

PROTEIN VIEW

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MBTPS2-001
 
MBTPS2-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MBTPS2-001 ENSP00000368798
ENST00000379484
O43462
Show all »
Show » Show » 519 57.4 No 7
MBTPS2-002 ENSP00000368796
ENST00000365779
B9ZVQ3
Show all »
Show » Show » 330 36.4 No 5