Symbol: Name: ID: |
MBTPS2 membrane-bound transcription factor peptidase, site 2 GFS:4665 |
Gene name: | MBTPS2 |
Chromosome: | Xp22.12-p22.11 |
Previous Symbols: | |
Previous Names: | membrane-bound transcription factor protease, site 2 |
Aliases: | S2P |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2444506 | Rat Genome Database ID: | RGD:1566171 |
HGNC ID: | HGNC:15455 | RefSeq IDs: | NM_015884 |
Entrez Gene ID: | 51360 | Ensembl Gene ID: | ENSG00000012174 |
VEGA IDs: | OTTHUMG00000021237 | UniProt ID: | O43462 |
UCSC ID: | uc004dae.2 | OMIM ID: | 300294 |
Pubmed: | PMID9847074 PMID 9659902 | ||
CCDS IDs: | CCDSCCDS14201.1 |
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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Intramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop.
Products for MBTPS2 gene
Catalog | Product Name | Application | Company |
GFS:E04665 | membrane-bound transcription factor peptidase, site 2; ELISA kit | ELISA | n/a |
GFS:A04665 | membrane-bound transcription factor peptidase, site 2; Anti | ANTIBODIES | n/a |
GFS:P04665 | membrane-bound transcription factor peptidase, site 2; Protien | Protien | n/a |