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Gene Review

ITGA7  -  integrin, alpha 7

Homo sapiens

Synonyms: Integrin alpha-7, UNQ406/PRO768
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Disease relevance of ITGA7

  • Our results demonstrate that mutations in ITGA7 are involved in a form of congenital myopathy [1].

High impact information on ITGA7

  • To determine if any of these three patients had mutations of the integrin alpha7 gene, ITGA7, we cloned and sequenced the full-length human ITGA7 cDNA, and screened the patients for mutations [1].
  • To study the potential involvement of alpha 7 integrin, during myogenesis and its role in muscle integrity and function, we generated a null allele of the alpha 7 gene (Itga7) in the germline of mice by homologous recombination in embryonic stem (ES) cells [2].
  • In the human, ITGA7 is present on chromosome 12q13 [3].
  • Expression of the alpha 7 integrin gene (ITGA7) is developmentally regulated during the formation of skeletal muscle [3].
  • Localization of the alpha 7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families [3].

Chemical compound and disease context of ITGA7

  • We have determined the structure and the exon size pattern of the human integrin alpha7 subunit gene (ITGA7), which has been shown to be affected in a form of congenital myopathy [4].

Biological context of ITGA7


  1. Mutations in the integrin alpha7 gene cause congenital myopathy. Hayashi, Y.K., Chou, F.L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B.L., Kramer, R.H., Kaufman, S.J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J.Z., Hoffman, E.P., Arahata, K. Nat. Genet. (1998) [Pubmed]
  2. Absence of integrin alpha 7 causes a novel form of muscular dystrophy. Mayer, U., Saher, G., Fässler, R., Bornemann, A., Echtermeyer, F., von der Mark, H., Miosge, N., Pöschl, E., von der Mark, K. Nat. Genet. (1997) [Pubmed]
  3. Localization of the alpha 7 integrin gene (ITGA7) on human chromosome 12q13: clustering of integrin and Hox genes implies parallel evolution of these gene families. Wang, W., Wu, W., Desai, T., Ward, D.C., Kaufman, S.J. Genomics (1995) [Pubmed]
  4. Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7). Vignier, N., Moghadaszadeh, B., Gary, F., Beckmann, J., Mayer, U., Guicheney, P. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
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