KEGG   VARIANT: 24145v1
Entry
24145v1                      Variant                               
Name
PANX1 mutation
Type
Loss of function
Gene
PANX1  pannexin 1 [KO:K03443]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608420
Network
nt06535  Efferocytosis
Disease
H01897  Oocyte/zygote/embryo maturation arrest
Reference
  Authors
Shao Q, Lindstrom K, Shi R, Kelly J, Schroeder A, Juusola J, Levine KL, Esseltine JL, Penuela S, Jackson MF, Laird DW
  Title
A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.
  Journal
J Biol Chem 291:12432-12443 (2016)
DOI:10.1074/jbc.M116.717934
Reference
  Authors
Sang Q, Zhang Z, Shi J, Sun X, Li B, Yan Z, Xue S, Ai A, Lyu Q, Li W, Zhang J, Wu L, Mao X, Chen B, Mu J, Li Q, Du J, Sun Q, Jin L, He L, Zhu S, Kuang Y, Wang L
  Title
A pannexin 1 channelopathy causes human oocyte death.
  Journal
Sci Transl Med 11:eaav8731 (2019)
DOI:10.1126/scitranslmed.aav8731
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