Gene: [04q312/MLR] mineralocorticoid receptor (aldosterone receptor); pseudohypoaldosteronism, type I, autosomal dominant (MIM:177735); [MCR ]
COM | The MLR gene is mapped to Chr 4q31.1 by Morrison-1989,1990 and to Chr 4q31.2 by Fan-1989." |
MUT | Some evidence has been presented that the mutation causing pseudohypoaldosteronism type I (MIM:264350) is located in MLR gene. This possibility was excluded by Chung-1995 by linkage analysis which demonstrated lod scores less than -2 over the whole region from D4S192 to D4S413 encompassing MLR. The analysis was carried out in 10 inbred families using 3 simple sequence length (SSL) polymorphisms spanning the MLR region; the approach represented homozygosity mapping. Geller-1998 presented evidence that the autosomal dominant form of the disorder (MIM:177735) can be caused by mutations in the MLR gene." |
REF | FUN,PAT,PHE "Armanini
&: New Engl J Med, 313, 1178-1181, 1985 SEQ,LOC,PRO "Arriza JL &: Science, 237, 268-275, 1987 FUN,PAT,PHE "Bosson &: Acta Endocrinol, 279, (Suppl), 376-380, 1986 LIN,MOL,POL "Buetow &: CCG, 51, (HGM10), 973, 1989 FUN,PAT,PHE "Cheek, Perry: Arch Dis Child, 33, 252-256, 1958 LIN,PAT,MUT "Chung E &: J Clin Endocrinol Metab, 80, N11, 3341-3345, 1995 FUN,PAT,PHE "Dillon &: Arch Dis Child, 55, 427-434, 1980 LOC,PRO "Fan Y-S &: CCG, 51, (HGM10), 996, 1989 MUT "Geller DS &: Nature Genet, 19, N3, 279-281, 1998 LOC,PRO "Morrison N &: Hum Genet, 85, 130-132, 1990 LOC,PRO "Morrison N &: CCG, 51, (HGM10), 1048, 1989 FUN,PAT,PHE "Oberfield &: J Clin Endocrinol Metab, 48, 228-234, 1979 FUN,PAT,PHE "Rosler A: J Clin Endocrinol Metab, 59, 689-700, 1984 |
SWI | SWISSPROT: P08235 |
KEY | horm, ster, recp |
CLA | coding, basic |
LOC | 04 q31.2 |
MIM | MIM: 600983 |
SYN | MCR |
