BHLHA9 basic helix-loop-helix family member a9

Gene ID: 727857, updated on 28-Oct-2024
Gene type: protein coding
Also known as: CCSPD; BHLHF42

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Camptosynpolydactyly, complex MedGen: C1843758OMIM: 607539GeneReviews: Not available	See labs
Mesoaxial synostotic syndactyly with phalangeal reduction MedGen: C1836206OMIM: 609432GeneReviews: Not available	See labs

Genomic context

Location:: 17p13.3

Sequence:: Chromosome: 17; NC_000017.11 (1270444..1271815)

Total number of exons:: 1

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for BHLHA9 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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