Putative Polycomb group protein ASXL1
The ASXL1 gene encodes a protein that is probably involved in gene regulation. Mutations cause autosomal dominant Bohring-Opitz syndrome.
Genetests:
Related Diseases:
References:
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Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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Hoischen A et al. (2011) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
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Magini P et al. (2012) Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
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Gelsi-Boyer V et al. (2009) Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.
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Carbuccia N et al. (2009) Mutations of ASXL1 gene in myeloproliferative neoplasms.
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Fisher CL et al. (2003) A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11.
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Chou WC et al. (2010) Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations.
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Park UH et al. (2011) Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}.
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Abdel-Wahab O et al. (2013) Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo.
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NCBI article
NCBI 171023
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OMIM.ORG article
Omim 612990
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Orphanet article
Orphanet ID 281482
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13. |
Wikipedia article
Wikipedia EN (ASXL1)
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Update: Aug. 14, 2020