DLX5 distal-less homeobox 5
Gene ID: 1749, updated on 4-Jan-2025Gene type: protein coding
Also known as: SHFM1; SHFM1D
- See all available tests in GTR for this gene
- Go to complete Gene record for DLX5
- Go to Variation Viewer for DLX5 variants
Summary
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
Associated conditions
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-05-14) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-05-14) ClinGen Genome Curation Page |
Genomic context
- Location:
- 7q21.3
- Sequence:
- Chromosome: 7; NC_000007.14 (97020396..97024831, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DLX5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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