Gene: DLX5

Alternate names for this Gene: SHFM1|SHFM1D

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.3

Description of this Gene: distal-less homeobox 5

Type of Gene: protein-coding

rs75290158 in DLX5 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs387906737 in DLX5 gene and Split-Hand-Foot Malformation With Sensorineural Hearing Loss PMID 22121204 2012 Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.