ORAI1base: Severe combined immunodeficiency

Version 1.0 last updated 16 June, 2011 contains 4 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the ORAI1base (previously known as TMEM142Abase) :

Defects in TMEM142a are a cause of severe combined immunodeficiency (SCID) with defects in store-operated Ca(2+) entry and CRAC channel function [mim:610277]. The SCID T-cells show a severe impairment in NFAT-dependent gene activation.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: ORAI1base