MBTPS2 membrane bound transcription factor peptidase, site 2

Gene ID: 51360, updated on 14-Nov-2024
Gene type: protein coding
Also known as: S2P; IFAP; KFSD; OI19; KFSDX; OLMSX; BRESEK

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
IFAP syndrome 1, with or without BRESHECK syndrome MedGen: C5399971OMIM: 308205GeneReviews: Not available	See labs
Keratosis follicularis spinulosa decalvans, X-linked MedGen: C3887525OMIM: 308800GeneReviews: Not available	See labs
Olmsted syndrome, X-linked MedGen: C3806745OMIM: 300918GeneReviews: Not available	See labs
Osteogenesis imperfecta, type 19 MedGen: C4746956OMIM: 301014GeneReviews: Not available	See labs

Genomic context

Location:: Xp22.12

Sequence:: Chromosome: X; NC_000023.11 (21839617..21885423)

Total number of exons:: 11

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MBTPS2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MBTPS2 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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