Gene: [03p21/PTHR1] parathyroid hormone receptor; metaphyseal chondrodysplasia, Murk Jansen type (MIM:156400);
|
COM |
By somatic cell hybrid analysis, Pausova et al. (Pausova-1994) mapped the PTHR1 gene to chromosome 3 and, by isotopic in situ hybridization, refined the assignment to 3p22-p21.1. Gelbert et al. (Gelbert-1994) mapped the PTHR1 gene to the vicinity of the 3p21.3-p21.2 boundary by PCR analysis of human/rodent somatic cell hybrid panels." |
|
FUN |
PTHR1 gene product encodes a 585-amino acid receptor for parathyroid hormone (GEM:11p15/PTH) and for parathyroid hormone-related protein (GEM:12p1/PTHLH). The PTHR1 molecule bound PTH and PTHLH with equal affinity, and both ligands equivalently stimulated adenylate cyclase (Juppner-1991)." |
|
FAG |
Another gene for PTH receptor is mapped: GEM:02q33/PTHR2. |
|
REF |
CLO,TRC,SEQ "Bettoun JD &: J Clin Endocrinol Metab, 82, N4, 1031-1040,
1997 PRO,LOC "Gelbert L &: J Clin Endocrinol Metab, 79, 1046-1048, 1994 COD,SEQ,EXP,FUN "Juppner H &: Science, 254, 1024-1026, 1991 LOC "Kong XF &: BBRC, 200, 1290-1299, 1994 LOC "Pausova Z &: Genomics, 20, 20-26, 1994 MUT,PAT "Schipani E &: New Engl J Med, 335, N10, 708-714, 1996 MUT,PAT "Schipani E &: Science, 268, 98-100, 1995 COD,SEQ "Schipani E &: Endocrinology, 132, 2157-2165, 1993 |
|
KEY |
recp, mem, horm |
|
CLA |
coding, basic |
|
LOC |
03 p21.3-.2 |
|
MIM |
MIM: 168468 |
