BHLHA9 - basic helix-loop-helix family member a9
This gene 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). [provided by RefSeq, Mar 2015]
NCBI Orthologs
How was this calculated?genes for:
Protein alignment
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Species | Gene | Architecture | aa |
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