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}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 8315
- Expression level (log2 read counts): -7.68