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Browse result for Bare lymphocyte syndrome

※ introduction

    Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency.

Reference
Wiki: Bare lymphocyte syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02276O002875994
RFXAP
Regulatory factor X-associated protein
Homo sapiens
PTMD02389O145938625
RFXANK
DNA-binding protein RFXANK
Homo sapiens
PTMD02611O155336892
TAPBP
Tapasin
Homo sapiens
PTMD04865P330764261
CIITA
MHC class II transactivator
Homo sapiens
PTMD05240P483825993
RFX5
DNA-binding protein RFX5
Homo sapiens
PTMD06192Q035186890
TAP1
Antigen peptide transporter 1
Homo sapiens
PTMD06193Q035196891
TAP2
Antigen peptide transporter 2
Homo sapiens