1. Gene
  2. DLX3 - distal-less homeobox 3 Gene

DLX3 - distal-less homeobox 3 Gene

Homo sapiens

Also known as AI4; TDO

Gene ID: 1747 | Gene type: protein coding

About DLX3

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:49,990,005-49,995,224 (from NCBI)

This gene has 2 transcripts (splice variants), 264 orthologues, 9 paralogues and is associated with 4 phenotypes. Biased expression in skin (RPKM 8.6), placenta (RPKM 4.8) and 2 other tissues.

Summary

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]

DLX3 Products(1)

mRNA Protein Name
NM_005220.3 NP_005211.1 homeobox protein DLX-3

DLX3 Protein Structure

DLL_N

DLL_N: Homeobox protein distal-less-like N terminal (27 - 106)

Homeobox

Homeobox: Homeobox domain (130 - 186)

  • 0
  • 100
  • 200
  • 287 a.a.
Protein Preferred Names Protein Names

homeobox protein DLX-3

Related Diseases

Diseases Alias
Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome

Tdo Syndrome

Trichodontoosseous Syndrome

TDO

Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Amelogenesis Imperfecta, Type Iv

AI4

Aihht

Amelogenesis Imperfecta Type 4

Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism

Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism

Amelogenesis Imperfecta 4

Ait

Amelogenesis Imperfecta 2 Hypocalcification Type

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta Type Iv

Amelogenesis Imperfecta With Taurodontism

Taurodontism

Bull Teeth

Large Pulp Chambers In The Molars

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Leiomyoma, Uterine

Uterine Leiomyoma

Uterine Fibroid

Uterine Fibroids

Plexiform Leiomyoma

UL

Leiomyoma Of Corpus Uteri

Uterus Fibroma

Choriocarcinoma

Chorioepithelioma

Heimler Syndrome 1

Deafness Enamel Hypoplasia Nail Defects

Heimler Syndrome

HMLR1

Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects

Peroxisome Biogenesis Disorder 1c

Pbd1c

Deafness-Enamel Hypoplasia-Nail Defects Syndrome

Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities

Peroxisomal Biogenesis Disorder 1c

Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects

Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome

Heimler, Syndrome

Heimler Syndrome, Type 1

Dental Caries

Dental Caries Extending Into Pulp

Dental Caries Of Smooth Surface

Dental Caries Pit And Fissure

Smooth Surface Dental Caries

Dental Decay

Carious Teeth

Dental Cavity

Saprodontia

Teeth Decayed

Tooth Caries

Tooth Decay

Amelogenesis Imperfecta, Type Iiia

Ai3

Adhcai

Amelogenesis Imperfecta Type 3

AI3A

Amelogenesis Imperfecta, Type Iii

Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant

Amelogenesis Imperfecta Type 3a

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta Type Iii

Hypocalcified Amelogenesis Imperfecta

Amelogenesis Imperfecta, Type 3

Amelogenesis Imperfecta, Hypomineralization Type

Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type

Amelogenesis Imperfecta 3a

Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant

Pericoronitis

Operculitis

Dental Pulp Calcification

Pulp Calcification

Pulp Calcifications

Pulpal Calcifications

Dental Pulp Stone

Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome

KTZS

Epilepsy And Yellow Teeth

Kohlschutter Tonz Syndrome

Kohlschutter Syndrome

Epilepsy Dementia Amelogenesis Imperfecta

Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome

Epilepsy, Dementia, And Amelogenesis Imperfecta

Kohlschutter'S Syndrome

Kohlschütter-Tönz Syndrome

Kohlschuetter-Toenz Syndrome

Presenile Dementia

Dementia

Teeth Hard Tissue Disease
Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia

Hed

Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic

Eda

Christ-Siemens-Touraine Syndrome

ECTD10B

Ectodermal Dysplasia Anhidrotic

Ectodermal Dysplasia, Anhidrotic

Cst Syndrome

Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

Dysplasia, Ectodermal, Hypohidrotic

Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Ectodermal Dysplasia 3, Anhidrotic

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

Orofacial Cleft

Cleft, Orofacial

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus DLX3 VGNC VGNC:98905
Canis familiaris DLX3 VGNC VGNC:39991
Rattus norvegicus DLX3 RGD RGD:1304875
Mus musculus DLX3 MGD MGI:94903
Bos taurus DLX3 VGNC VGNC:55816
Macaca mulatta DLX3 VGNC VGNC:71930