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