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BHLHA9 is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3).
Gene Name: | basic helix-loop-helix family, member a9 |
Synonyms: | BHLHA9, BHLHF42 |
Target Sequences: | NP_001157877.1 Q7RTU4 |
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