Gene: [0Xq133/ATRX] helicase 2, X-linked (XH2); RAD54 (Yeast) homolog; alpha thalassemia/mental retardation syndrome, X-linked; alpha thalassemia/mental retardation syndrome, nondeletion type (MIM:301040); Juberg-Marsidi syndrome (MIM:309590); [RAD54 XH2 JMS ]
CAG | Villard-1996a,1996b demonstrated that X-linked alpha-thalassemia/mental retardation syndrome and Juberg-Marsidi syndrome appear to be allelic disorders." |
REF | MUT,PAT "Gibbons RJ &:
Cell, 80, 837-845, 1995 CLO,SEQ,STR,LOC "Picketts DJ &: Hum Mol Genet, 5, 1899-1907, 1996 CLO,SEQ,STR,LOC "Stayton CL &: Hum Mol Genet, 3, 1957-1964, 1994 MUT,PAT "Villard L &: AJHG, 58, 499-505, 1996a MUT,PAT "Villard L &: Nature Genet, 12, 359-360, 1996b |
SWI | SWISSPROT: P46100 |
KEY | neu, devd |
CLA | coding, basic |
LOC | 0X q13.3 |
MIM | MIM: 300032 |
SYN | RAD54 XH2 JMS |
