BHLHA9
Sign in to saveAlso known as BHLHF42, basic helix-loop-helix family member a9, CCSPD
Basic helix-loop-helix family, member a9 is a protein in humans that is encoded by the BHLHA9 gene.
Gene data
BHLHA9- Name
- basic helix-loop-helix family member a9
- Type
- protein-coding
- Position
- 1,270,444–1,271,815 (+)
- Aliases
- BHLHF42, CCSPD
- Ensembl
- ENSG00000205899
- RefSeq RNA
- NM_001164405.2
- RefSeq protein
- NP_001157877.1
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
basic helix-loop-helix family member a9
- Symbol
- BHLHA9
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:1,270,444-1,271,815
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 82363
- genomic start
- 1270444
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/727857
- genomic end
- 1271815
- chromosome
- human chromosome 17
- cytogenetic location
- 17p13.3
- expressed in
- amygdala
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- External links
- Further reading
Basic helix-loop-helix family, member a9 is a protein in humans that is encoded by the BHLHA9 gene.
== References ==
Excerpted from Wikipedia’s “BHLHA9” article, available under the CC BY-SA 4.0 licence.