Gene: [21q223/AIRE] autoimmune regulator; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; polyglandular autoimmune syndrome 1 (Persian-Jewish type); hypoadrenocorticism with hypoparathyroidism and superficial moniliasis; [APECED PGA1 ]


REF

LOC,FUN "Aaltonen J &: Genome Res, 7, N8, 820-829, 1997
PAT,LOC,LIN "Aaltonen J &: Nature Genet, 8, 83-87, 1994
PAT,LOC,LIN "Bjorses P &: AJHG, 59, N4, 879-886, 1996
FUN "Clemente MG &: J Clin Endocrinol Metab, 82, N5, 1353-1361, 1997
FUN "Husebye ES &: J Clin Endocrinol Metab, 82, N1, 147-150, 1997
CLO,SEQ "Nagamine K &: Nature Genet, 17, N4, 393-398, 1997

KEY

aim, horm, devd

CLA

coding, basic

LOC

21 q22.3

MIM

MIM: 240300

SYN

APECED PGA1

鸯铗痂蝈 蜞赕:

  • Gene: [21q223/TMEM1] transmembrane protein 1; [EHOC-1 GT334 ]
  • Gene: [21q223/PNK] pyridoxal kinase;
  • 沐 AIRE