NETWORK: N00295
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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
Disease
H01862
Hypoparathyroidism
Gene
9247
GCM2; glial cells missing homolog 2
5741
PTH; parathyroid hormone
Variant
9247v1
(GCM2*) GCM2 inactivating mutation
Reference
PMID:
16697534
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
PMID:
20190276
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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