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Gene Review

Fancl  -  Fanconi anemia, complementation group L

Mus musculus

Synonyms: 2010322C19Rik, AW554273, B230118H11Rik, E3 ubiquitin-protein ligase FANCL, Fanconi anemia group L protein homolog, ...
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Disease relevance of Fancl


High impact information on Fancl


Biological context of Fancl


Anatomical context of Fancl

  • The germ cell-deficient (gcd) mutation is a recessive transgenic insertional mutation leading to a deficiency of primordial germ cells (PGCs) [6].
  • The ovaries of young gcd/gcd animals are atrophic, composed of little more than stromal cells in a connective tissue matrix [10].
  • We found wide expression of FANCL in brain, muscle, heart, lung, liver, spleen, kidney, testis, ovary and uterus, indicating the functional importance of this novel protein [9].

Analytical, diagnostic and therapeutic context of Fancl


  1. Late onset of spermatogenesis and gain of fertility in POG-deficient mice indicate that POG is not necessary for the proliferation of spermatogonia. Lu, B., Bishop, C.E. Biol. Reprod. (2003) [Pubmed]
  2. Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice. Pellas, T.C., Ramachandran, B., Duncan, M., Pan, S.S., Marone, M., Chada, K. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  3. A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd. Agoulnik, A.I., Lu, B., Zhu, Q., Truong, C., Ty, M.T., Arango, N., Chada, K.K., Bishop, C.E. Hum. Mol. Genet. (2002) [Pubmed]
  4. Germ cell deficient (gcd) mouse as a model of premature ovarian failure. Duncan, M., Cummings, L., Chada, K. Biol. Reprod. (1993) [Pubmed]
  5. A novel ubiquitin ligase is deficient in Fanconi anemia. Meetei, A.R., de Winter, J.P., Medhurst, A.L., Wallisch, M., Waisfisz, Q., van de Vrugt, H.J., Oostra, A.B., Yan, Z., Ling, C., Bishop, C.E., Hoatlin, M.E., Joenje, H., Wang, W. Nat. Genet. (2003) [Pubmed]
  6. Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene Ggn, interact with mouse POG and play a role in spermatogenesis. Lu, B., Bishop, C.E. J. Biol. Chem. (2003) [Pubmed]
  7. Germ-cell specific protein gametogenetin protein 2 (GGN2), expression in the testis, and association with intracellular membrane. Zhao, Q., Zhou, Y., Cao, Z., Zhu, H., Huang, P., Lu, B. Mol. Reprod. Dev. (2005) [Pubmed]
  8. The germ cell deficient locus maps to mouse chromosome 11A2-3. Duncan, M.K., Lieman, J., Chada, K.K. Mamm. Genome (1995) [Pubmed]
  9. Generation of mouse FANCL antibody and analysis of FANCL protein expression profile in mouse tissues. Zhao, Q.G., Zhou, Y., Zhu, H.Q., Lu, B.S., Huang, P.T. Yi Chuan Xue Bao (2006) [Pubmed]
  10. Incidence of tubulostromal adenoma of the ovary in aged germ cell-deficient mice. Duncan, M.K., Chada, K.K. J. Comp. Pathol. (1993) [Pubmed]
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