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Entry
N00295                      Network                                

Name
Mutation-inactivated GCM2 to transcription
Definition
GCM2* // PTH
  Expanded
9247v1 // 5741
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
9247v1  GCM2 inactivating mutation
Reference
  Authors
Sticht H, Hashemolhosseini S
  Title
A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.
  Journal
Med Hypotheses 67:482-7 (2006)
DOI:10.1016/j.mehy.2006.01.062
Reference
  Authors
Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV
  Title
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
  Journal
Hum Mol Genet 19:2028-38 (2010)
DOI:10.1093/hmg/ddq084
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