VARIANT: 9247v1
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Entry
9247v1 Variant
Name
GCM2 inactivating mutation
Gene
GCM2
glial cells missing transcription factor 2 [KO:
K21598
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R47L
ClinVar:
6091
dbSNP:
rs104893959
Variation
mutation I298Tfs
ClinVar:
64623
dbSNP:
rs886037646
Variation
mutation G63S
ClinVar:
6092
dbSNP:
rs104893960
Network
nt06318
CaSR-PTH signaling
Element
N00295
Mutation-inactivated GCM2 to transcription
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
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
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