GCM2  glial cells missing transcription factor 2 [KO:K21598]

hsa_var Human gene variants (Homo sapiens)

mutation R47L
ClinVar: 6091
dbSNP: rs104893959

mutation I298Tfs
ClinVar: 64623
dbSNP: rs886037646

mutation G63S
ClinVar: 6092
dbSNP: rs104893960

nt06318  CaSR-PTH signaling

PMID:20190276

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

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Hum Mol Genet 19:2028-38 (2010)
DOI:10.1093/hmg/ddq084

PMID:16697534

Sticht H, Hashemolhosseini S

A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.

Med Hypotheses 67:482-7 (2006)
DOI:10.1016/j.mehy.2006.01.062