Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Gene: HGNC:15455

expand all nodes | collapse all nodes | view schema

Name Class

HGNC:15455IdentityNameCGC_nameMbtps2Inferred_automaticallyAGR_import
Other_name (17)
Public_nameMbtps2
DB_infoDatabaseHGNCid15455
AGRcURIHGNC:15455
EnsEMBLENSEMBL_geneIDENSG00000012174
UniProtUniProt_ACO43462
OMIMgene300294
DOidDOID:0112012
DOID:0111847
DOID:0111821
DOID:0080754
SpeciesHomo sapiens
StatusLive
Gene_infoBiotypeSO:0001217
OrthologWBGene00013225Caenorhabditis elegansFrom_analysisEnsEMBL-Compara
Hieranoid
Inparanoid
OMA
OrthoFinder
OrthoInspector
Panther
PhylomeDB
SonicParanoid
Structured_descriptionAutomated_descriptionThis 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]Inferred_automaticallyAGR_import