Gene: [14q31/TSHR] thyroid stimulating hormone receptor (thyrotropin receptor); TSH resistance (unresponsiveness to thyrotropin);
MOP | TSHR is a heterodimer of a extracellular (hormone-binding) alpha subunit (53 kD) and a membrane-spanning beta subunit (from 33 to 42kD). Alpha and beta subunits are produced by alternative splicing." |
CAG | Mutations of this gene may cause agoitrous cretinism or athyreotic cretinism (MIM:218700)." |
HIS | TSHR gene was previously thought to be located in chr 22; see 'Comment' in GEM:22q13/TAKU." |
REF | MUT "Bahn RS &: J Clin Endocrinol Metab, 78, 256-260, 1994 PRO,COD,SEQ "Frazier AL &: Mol Endocrinol, 4, 1264-1276, 1990 PRO,COD,SEQ "Graves PN &: BBRC, 187, 1135-1143, 1992 MUT "Heldin N-E &: J Clin Endocrinol Metab, 73, 1374-1376, 1991 PRO,COD,SEQ,LOC "Libert F &: BBRC, 165, 1250-1255, 1989 MOP "Loosfelt H &: PNAS, 89, 3765-3769, 1992 COM "McBride OW &: AJHG, 41, A177, 1987 PRO,COD,SEQ "Misrahi M &: BBRC, 166, 399-403, 1990 COM "Mitchell AL &: CCG, 51, (HGM10), 1045, 1989 PRO,COD,SEQ "Nagayama Y &: BBRC, 165, 1184-1190, 1989 MUT "Ohno M &: Thyroid, 5, 97-100, 1995 MUT "Parma J &: Nature, 365, 649-651, 1993 LOC "Rousseau-Merck MF &: Genomics, 8, N2, 233-236, 1990 |
SWI | SWISSPROT: P16473 |
KEY | neu, horm, recp |
CLA | coding, basic |
LOC | 14 q31 |
MIM | MIM: 275200 |
