GREB1L

Summary

Gene Symbol: GREB1L
Description: GREB1 like retinoic acid receptor coactivator
Alias: C18orf6, KIAA1772, RHDA3, GREB1-like protein, growth regulation by estrogen in breast cancer 1 like, growth regulation by estrogen in breast cancer 1-like protein, growth regulation by estrogen in breast cancer-like
Species: human
Products:     GREB1L

Top Publications

  1. Brophy P, Rasmussen M, Parida M, Bonde G, Darbro B, Hong X, et al. A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. Genetics. 2017;207:215-228 pubmed publisher
    ..of two families showing inheritance of an RA phenotype, and in both identified a single candidate gene, GREB1L Analysis of a zebrafish greb1l loss-of-function mutant revealed defects in the pronephric kidney just ..
  2. Sanna Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly H, et al. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017;101:789-802 pubmed publisher
    ..The top signal resided in GREB1L, a gene implicated previously in Hoxb1 and Shha signaling in zebrafish...
  3. De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, et al. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. Am J Hum Genet. 2017;101:803-814 pubmed publisher
    ..case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling...