KEGG   VARIANT: 9276v1
Entry
9276v1                      Variant                                
Name
COPB2 mutation
Type
Loss of function
Gene
COPB2  coatomer subunit beta' isoform 1 [KO:K17302]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606990
Network
nt06550  Lysosome biogenesis
Disease
H00269  Primary microcephaly
H03036  Childhood- or juvenile-onset osteoporosis with developmental delay
Reference
  Authors
DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW
  Title
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
  Journal
Hum Mol Genet 26:4836-4848 (2017)
DOI:10.1093/hmg/ddx362
Reference
  Authors
Marom R, Burrage LC, Venditti R, Clement A, Blanco-Sanchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR, Westerfield M, De Matteis MA, Lee B
  Title
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
  Journal
Am J Hum Genet 108:1710-1724 (2021)
DOI:10.1016/j.ajhg.2021.08.002
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