TGDS - TDP-glucose 4,6-dehydratase Gene

Also Known as TDPGD; SDR2E1; CATMANS

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 23483

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

TGDS Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
TGDS O95455 HTT Homo sapiens P42858 32814053
Intra
TGDS O95455 HTT Homo sapiens P42858 32814053
Intra
TGDS O95455 HTT Homo sapiens P42858 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

生物種 Symbol 由来 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