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Literature summary for 2.7.10.1 extracted from

  • Spritz, R.A.; Giebel, L.B.; Holmes, S.A.
    Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism (1992), Am. J. Hum. Genet., 50, 261-269.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
additional information c-kit gene mutations in three patients with piebaldism: a missense substitution Phe584-Leu, within the tyrosine kinase domain, is associated with a severe piebald phenotype, whereas two different frameshifts, within codons 561 and 642, are both associated with a variable and relatively mild piebald phenotype Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P10721
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Synonyms

Synonyms Comment Organism
mast/stem cell growth factor receptor
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Homo sapiens