2ckc | pdb_00002ckc
From Proteopedia
Solution structures of the BRK domains of the human Chromo Helicase Domain 7 and 8, reveals structural similarity with GYF domain suggesting a role in protein interaction
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Structural highlights
DiseaseCHD7_HUMAN CHARGE syndrome;Normosmic congenital hypogonadotropic hypogonadism;Omenn syndrome;Kallmann syndrome. The disease is caused by variants affecting the gene represented in this entry. Disease susceptibility is associated with variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. FunctionCHD7_HUMAN Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.[1] Evolutionary ConservationCheck, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
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This page was last modified 05:34, 15 May 2024.