BHLHA9

Gene Information
  • Official Symbol: BHLHA9
  • Official Name: basic helix-loop-helix family member a9
  • Aliases and Previous Symbols: N/A
  • Entrez ID: 727857
  • UniProt: Q7RTU4
  • Interactions: BioGRID
  • PubMed articles: Open PubMed
  • OMIM: Open OMIM
Function Summary
  • Entrez Summary: 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].
  • UniProt Summary: Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis. {ECO:0000269|PubMed:22147889, ECO:0000269|PubMed:25466284}.

Pfam Domains GO Terms


CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6
  • Essentiality Rank: 8315
  • Expression level (log2 read counts): -7.68

Expression Distribution

  • Last modified: 2025/12/10 20:19
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