DLX5 distal-less homeobox 5

Gene ID: 1749, updated on 18-Sep-2024
Gene type: protein coding
Also known as: SHFM1; SHFM1D

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

See all available tests in GTR for this gene

Description	Tests
Split hand-foot malformation 1 MedGen: C2931019OMIM: 183600GeneReviews: Not available	See labs
Split hand-foot malformation 1 with sensorineural hearing loss MedGen: C1857344OMIM: 220600GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-05-14) ClinGen Genome Curation Page Triplosensitivity 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

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 DLX5 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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