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

TGDS - TDP-glucose 4,6-dehydratase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：TDP-葡萄糖 4,6-脱水酶

种属: Homo sapiens

同用名: TDPGD; SDR2E1; CATMANS

基因 ID: 23483 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是短链脱氢酶/还原酶 (SDR) 超家族的成员，并且被认为含有烟酰胺腺嘌呤二核苷酸 (NAD) 结合域。这个庞大的 SDR 酶家族参与多种化合物的代谢，包括前列腺素、类视黄醇、脂质、类固醇激素和异生素。该基因的突变与 Catel-Manzke 综合征有关，其特征是皮埃尔罗宾序列，以及由于食指与其近端指骨之间存在副骨而导致的食指径向偏差。 Pierre Robin 序列定义为下颌尺寸过小、舌根向后移位导致气道阻塞，也可能与腭裂有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 1 月]

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 基因产物(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 蛋白结构

Epimerase

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

  • 0
  • 100
  • 200
  • 300
  • 350 a.a.
蛋白主名 其他名称

dTDP-D-glucose 4,6-dehydratase

growth-inhibiting protein 21

TGDS 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TGDS O95455 HTT Homo sapiens P42858
Y2H Pooling
32814053
种属内
TGDS O95455 HTT Homo sapiens P42858
Validated Y2H
32814053
种属内
TGDS O95455 HTT Homo sapiens P42858
Y2H Array
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (14)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-146799S 15:0-18:1-15:0 TG-d7 ≥99.0% 否
HY-146913S 15:0-18:1-15:0 TG-d5 / 否
HY-146914S 16:0-18:0-16:0 TG-d5 99.90% 否
HY-146917S 20:0-20:1-20:0 TG-d5 99.90% 否
HY-163164S 18:1-17:1-18:1 TG-d5 99.00% 否
HY-163163S 18:1-21:2-18:1 TG-d5 99.00% 否
HY-146912S 14:0-16:1-14:0 TG-d5 / 否
HY-146915S 17:0-17:1-17:0 TG-d5 99.90% 否
HY-146916S 19:0-12:0-19:0 TG-d5 ≥99.0% 否
HY-163165S 16:0-19:2-16:0 TG-d5 / 否
HY-RS14433 TGDS Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-163166S 18:1-19:2-18:1 TG-d5 / 否
HY-RS19644 Tgds Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26137 Tgds Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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