Gene: [0Xp213/AHC] adrenal hypoplasia, congenital; Addison disease; dosage-sensitive sex reversal (DSS; MIM:300018); DSS-AHC critical region on the X chromosome gene 1 (DAX1); [DSS DAX1 ]

PAT

DSS, when present in duplicate, results in male-to-female sex reversal (Bardoni-1994)."

REF

LIN,LOC "Bardoni B &: Nature Genet, 7, 497-501, 1994
LOC "Bartley &: J Pediatr, 108, 189-192, 1986
LOC "Chelly &: Hum Genet, 78, 222-227, 1988
LOC "Francke U &: AJHG, 40, 212-227, 1987
CLO,SEQ,GEN,MUT "Guo W &: J Clin Endocrinol Metab, 81, N7, 2481-2486, 1996
CLO,SEQ,GEN,MUT "Habiby RL &: J Clin Invest, 98, N4, 1055-1062, 1996
MUT,PAT "Muscatelli F &: Nature, 372, 672-676, 1994
MUT "Nakae J &: J Clin Endocrinol Metab, 82, N11, 3835-3841, 1997
MUT "Schwartz M &: Hum Genet, 99, N1, 83-87, 1997
MUT "Swain A &: Nature, 391, N6669, 761-767, 1998
MUT "Yanase T &: J Clin Endocrinol Metab, 81, N2, 530-535, 1996
LOC "Yates &: CCG, 46, (HGM9), 723-724, 1987
CLO,SEQ,STR "Zanaria E &: Nature, 372, 635-641, 1994

SWI

 SWISSPROT: P51843

KEY

horm

CLA

coding, basic

LOC

0X p21.3

MIM

 MIM: 300200

SYN

DSS DAX1