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HYLS1 encodes a protein localized to the cytoplasm.
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The homozygous mutation of the hydrolethalus syndrome 1 gene (HYLS1) was identified in a consanguinity family in a 17 year old male and his 11 year old younger brother.
Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1
This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified.
hydrolethalus syndrome 1
, hydrolethalus syndrome protein 1
, hydrolethalus syndrome protein 1 homolog