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  2. TGDS - TDP-glucose 4,6-dehydratase Gene

TGDS - TDP-glucose 4,6-dehydratase Gene

Homo sapiens

Also known as TDPGD; SDR2E1; CATMANS

Gene ID: 23483 | Gene type: protein coding

About TGDS

Cytogenetic location: 13q32.1 Genomic coordinates (GRCh38): 13:94,574,054-94,596,273 (from NCBI)

This gene has 3 transcripts (splice variants), 214 orthologues and 10 paralogues. Ubiquitous expression in thyroid (RPKM 7.9), liver (RPKM 6.7) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of Enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid Hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

TGDS Products(2)

mRNA Protein Name
NM_001304430.2 NP_001291359.1 dTDP-D-glucose 4,6-dehydratase isoform 2
NM_014305.4 NP_055120.1 dTDP-D-glucose 4,6-dehydratase isoform 1

TGDS Protein Structure

Epimerase

Epimerase: NAD dependent epimerase/dehydratase family (20 - 258)

  • 0
  • 100
  • 200
  • 300
  • 350 a.a.
Protein Preferred Names Protein Names

dTDP-D-glucose 4,6-dehydratase

growth-inhibiting protein 21

Related Diseases

Diseases Alias
Catel-Manzke Syndrome

Hyperphalangy-Clinodactyly Of Index Finger With Pierre Robin Syndrome

Micrognathia Digital Syndrome

Pierre Robin Syndrome With Hyperphalangy And Clinodactyly

Index Finger Anomaly With Pierre Robin Syndrome

Palatodigital Syndrome, Catel-Manzke Type

Catel Manzke Syndrome

CATMANS

Palatodigital Syndrome Catel-Manzke Type

Index Finger Anomaly-Pierre Robin Syndrome

Pierre Robin Sequence-Hyperphalangy-Clinodactyly Syndrome

Pierre Robin Syndrome-Hyperphalangy-Clinodactyly Syndrome

Hyperphalangy

Supernumerary Phalanges

Supernumerary Phalanx

Hydroxykynureninuria

Xanthurenic Aciduria

Kynureninase Deficiency

Kynureninase Deficiency, Partial

HYXKY

Partial Kynureninase Deficiency

Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type

TPBS

Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

Preaxial Brachydactyly Syndrome Temtamy Type

Alzheimer Disease 8

Ad8

Alzheimer'S Disease 8

Alzheimer Disease, Familial, 8

Alzheimer Disease, Familial 8

Alzheimer'S Disease 8, Late Onset

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita

Dysostosis

Dysostoses

Saul-Wilson Syndrome

Microcephalic Osteodysplastic Dysplasia

Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type

SWILS

Microcephalic Osteodysplastic Dysplasia Saul Wilson Type

Macroglossia

Congenital Macroglossia

Enlarged Tongue

Giant Tongue

Acquired Macroglossia Nos

Congenital Hypertrophy Of Tongue

Tarp Syndrome

TARPS

Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

Pierre Robin Sequence - Congenital Heart Defect - Talipes

Pierre Robin Syndrome - Congenital Heart Defect - Talipes

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava

Mixed Sleep Apnea

Complex Sleep Apnea

Sleep Apnea, Mixed Central And Obstructive

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Larsen Syndrome

LRS

Larsen Syndrome, Dominant Type

Dominant Larsen Syndrome

Autosomal Dominant Larsen Syndrome

Larsens Syndrome

Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome

Laryngomalacia

Congenital Laryngomalacia

Congenital Laryngeal Stridor

Laryngomalacia Congenital

Floppy Epiglottis

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

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
Bos taurus TGDS VGNC VGNC:35799
Canis familiaris TGDS VGNC VGNC:47307
Felis catus TGDS VGNC VGNC:66129
Macaca mulatta TGDS VGNC VGNC:79243
Rattus norvegicus TGDS RGD RGD:1306544
Mus musculus TGDS MGD MGI:1923605
Others TGDS NCBI