KEGG   NETWORK: N00296Help
Entry
N00296                      Network                                

Name
Mutation-inactivated PTH to degradation
Definition
GCM2 // PTH*
  Expanded
9247 // 5741v1
Class
nt06318 CaSR-PTH signaling
Type
Variant
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
Disease
H01862  Hypoparathyroidism
Gene
9247  GCM2; glial cells missing homolog 2
5741  PTH; parathyroid hormone
Variant
5741v1  PTH mutation
Reference
  Authors
Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S
  Title
A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.
  Journal
J Clin Endocrinol Metab 84:3792-6 (1999)
DOI:10.1210/jcem.84.10.6070
Reference
PMID:2212001
  Authors
Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM
  Title
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
  Journal
J Clin Invest 86:1084-7 (1990)
DOI:10.1172/JCI114811
LinkDB All DBs

DBGET integrated database retrieval system