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Gene Review

NAALADL2  -  N-acetylated alpha-linked acidic...

Homo sapiens

Synonyms: Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2, NAALADase L2
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Disease relevance of NAALADL2


High impact information on NAALADL2

  • We show that the 3q26.3 breakpoint severs a previously uncharacterised giant gene, NAALADL2, containing at least 32 exons spanning 1.37 Mb [2].


  1. Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Borg, K., Stankiewicz, P., Bocian, E., Kruczek, A., Obersztyn, E., Lupski, J.R., Mazurczak, T. Hum. Genet. (2005) [Pubmed]
  2. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Tonkin, E.T., Smith, M., Eichhorn, P., Jones, S., Imamwerdi, B., Lindsay, S., Jackson, M., Wang, T.J., Ireland, M., Burn, J., Krantz, I.D., Carr, P., Strachan, T. Hum. Genet. (2004) [Pubmed]
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