TGDS (TDP-glucose 4,6-dehydratase)

2014-11-01  

Identity

HGNC
LOCATION
13q32.1
LOCUSID
ALIAS
CATMANS,SDR2E1,TDPGD
FUSION GENES

Other Information

Locus ID:

NCBI: 23483
MIM: 616146
HGNC: 20324
Ensembl: ENSG00000088451

Variants:

dbSNP: 23483
ClinVar: 23483
TCGA: ENSG00000088451
COSMIC: TGDS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088451ENST00000261296O95455

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
254800372014Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.8
284224072017Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.0

Citation

Dessen P

TGDS (TDP-glucose 4,6-dehydratase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74655/tgds