Gene: [03q/CASR] calcium-sensing receptor; hypocalciuric hypercalcemia 1 (HHC1; MIM:145980); severe neonatal hyperparathyroidism (MIM:239200); hypocalcemia, autosomal dominant (MIM:601198); hyperparathyroidism, familial isolated (FIH; MIM:146200); [HHC1 ]
COM | Janicic-1995 mapped the CASR gene to 3q13.3-q21 by fluorescence in situ hybridization." |
FUN | The calcium-sensing receptor (CASR), a member of the G-protein coupled receptor family, is expressed in both parathyroid and kidney, and aids these organs in sensing extracellular calcium levels (Janicic-1995)." |
REL | GEM:19p1/HHC2. |
REF | MUT,PAT "Aida K &: J
Clin Endocrinol Metab, 80, 2594-2598, 1995 MUT,PAT "Baron J &: Hum Mol Genet, 5, 601-606, 1996 MUT,PAT "Chou Y-HW &: AJHG, 56, 1075-1079, 1995 LIN,LOC,PAT "Finegold DN &: Pediatr Res, 36, 414-417, 1994 PRO,LOC,EAG "Janicic N &: Mammal Genome, 6, 798-801, 1995 MUT,PAT "Lovlie R &: Hum Genet, 98, 129-133, 1996 MUT,PAT "Pearce SHS &: New Engl J Med, 335, 1115-1122, 1996 MUT,PAT "Pearce SHS &: J Clin Invest, 96, 2683-2692, 1995 MUT,PAT "Pollak MR &: J Clin Invest, 93, 1108-1112, 1994a MUT,PAT "Pollak MR &: Nature Genet, 8, 303-307, 1994b MUT,PAT "Pollak MR &: Cell, 75, 1297-1303, 1993 |
SWI | SWISSPROT: P41180 |
KEY | recp, hem, ion, mtbd |
CLA | coding, basic |
LOC | 03 q13.3-21 |
MIM | MIM: 601199 |
SYN | HHC1 |
