TGDS - TDP-glucose 4,6-dehydratase-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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23483 TGDS

基因描述

Type	Description
Definition	TDP-glucose 4,6-dehydratase

研究结论

Date	Results	Publications
2021-01-09 13:26:00	Catel-Manzke syndrome without Manzke dysostosis.	31833187
2021-01-09 13:25:00	TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.	31769200
2017-12-02 10:08:00	Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel-Manzke syndrome.	28422407
2015-02-28 10:09:00	By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome.	25480037

名称对应

Type	IDs
Synonymous	CATMANS, SDR2E1, TDPGD
Gene	UniProtKB-ID: TGDS_HUMAN UniprotKB: O95455 UniParc: UPI000006E8F4 EMBL: BC033675, AK313251, AF048686, AY544125, AL359708, AJ006068, BC005284, CH471085, AL139318 Ensembl: ENSG00000088451 KO: hsa:23483
Nucleutide sequences	EMBL-CDS: AAH05284.1, AAT11156.1, BAG36061.1, EAX08940.1, EAX08941.1, AAH33675.1, AAD50061.1, CAA06840.1 Ensembl_TRS: ENST00000261296
Protein sequencees	Ensembl_PRO: ENSP00000261296 RefSeq: NP_001291359.1, XP_011519368.1, XP_011519367.1, NP_055120.1
Others	UniRef100: UniRef100_O95455 UniRef90: UniRef90_O95455 UniRef50: UniRef50_O95455 UniGene: Hs.12393 CCDS: CCDS9471.1

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mRNA

Protein

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Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
32814053	Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Cell Rep Christian Haenig , Nir Atias , Alexander K Taylor , Arnon Mazza , Martin H Schaefer , Jenny Russ , Sean-Patrick Riechers , Shushant Jain , Maura Coughlin , Jean-Fred Fontaine , Brian D Freibaum , Lydia Brusendorf , Martina Zenkner , Pablo Porras , Martin Stroedicke , Sigrid Schnoegl , Kristin Arnsburg , Annett Boeddrich , Lucia Pigazzini , Peter Heutink , J Paul Taylor , Janine Kirstein , Miguel A Andrade-Navarro , Roded Sharan , Erich E Wanker	2020-08-18	-
31833187	Catel-Manzke syndrome without Manzke dysostosis. Am J Med Genet A Danny E Miller , Penny Chow , Emily R Gallagher , Jonathan A Perkins , Tara L Wenger	2020-03-01	-
31769200	TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. Am J Med Genet A Felix Boschann , Kyra E Stuurman , Christiaan de Bruin , Marjon van Slegtenhorst , Hermine A van Duyvenvoorde , Sarina G Kant , Nadja Ehmke	2020-03-01	-
28422407	Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. Am J Med Genet A Katharina Schoner , Rainer Bald , Denise Horn , Helga Rehder , Uwe Kornak , Nadja Ehmke	2017-06-01	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
25480037	Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. Am J Hum Genet Nadja Ehmke , Almuth Caliebe , Rainer Koenig , Sarina G Kant , Zornitza Stark , ValÃ©rie Cormier-Daire , Dagmar Wieczorek , Gabriele Gillessen-Kaesbach , Kirstin Hoff , Amit Kawalia , Holger Thiele , Janine AltmÃ¼ller , BjÃ¶rn Fischer-Zirnsak , Alexej Knaus , Na Zhu , Verena Heinrich , Celine Huber , Izabela Harabula , Malte Spielmann , Denise Horn , Uwe Kornak , Jochen Hecht , Peter M Krawitz , Peter NÃ¼rnberg , Reiner Siebert , Hermann Manzke , Stefan Mundlos	2014-12-04	-
23503679	Protein interaction discovery using parallel analysis of translated ORFs (PLATO). Nat. Biotechnol. Jian Zhu , H Benjamin Larman , Geng Gao , Romel Somwar , Zijuan Zhang , Uri Laserson , Alberto Ciccia , Natalya Pavlova , George Church , Wei Zhang , Santosh Kesari , Stephen J Elledge	2013-04-01	-
22939629	A census of human soluble protein complexes. Cell Pierre C Havugimana , G Traver Hart , TamÃ¡s Nepusz , Haixuan Yang , Andrei L Turinsky , Zhihua Li , Peggy I Wang , Daniel R Boutz , Vincent Fong , Sadhna Phanse , Mohan Babu , Stephanie A Craig , Pingzhao Hu , Cuihong Wan , James Vlasblom , Vaqaar-un-Nisa Dar , Alexandr Bezginov , Gregory W Clark , Gabriel C Wu , Shoshana J Wodak , Elisabeth R M Tillier , Alberto Paccanaro , Edward M Marcotte , Andrew Emili	2012-08-31	SRB2, TRA1, MED6, CDH2, DDTL, ABI1, SRA1, UQCRFS1P1, SNRPGP15, ZNF316, LOC100132057, PDCD6IP, PDCD6, MED16, PIGK, WASH1, CHAF1A, TOM1L1, HMGXB4, RANBP9, SMC4, UBA2, SAE1, FARSB, ABCB6, ABCF2, TIMM23B, SCAMP3, DPP3, HUWE1, TSSC4, PDCD7, USH1C, PQBP1, ARPC5, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, NUBP2, TSFM, PPIF, ARPC2, RAD50, PREB, ACTR1B, ACTR1A, RASGRP1, LRPPRC, PDIA6, TRAP1, RBM12, G3BP1, SUGP2, TRIM28, WASF2, SLC25A13, SORBS3, ALYREF, TXNDC9, CDK4, PRMT3, PSME3, MPHOSPH6, CDK5, NUTF2, EIF1, FLOT1, PSMD14, CDK7, ADAM10, PLIN3, STX6, MSLN, HNRNPR, MRPS31, TIMM17B, RIDA, POP7, SRRM1, CDK9, STAM2, SF3B4, ZMPSTE24, STUB1, UBE4B, BET1, CWC27, SAP18, SMNDC1, BCAS2, EIF1B, SF3A1, MAEA, KATNB1, TCIRG1, RTN3, LANCL1
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-
19027726	The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. Chem Biol Interact Bengt Persson , Yvonne Kallberg , James E Bray , Elspeth Bruford , Stephen L Dellaporta , Angelo D Favia , Roser Gonzalez Duarte , Hans JÃ¶rnvall , Kathryn L Kavanagh , Natalia Kedishvili , Michael Kisiela , Edmund Maser , Rebekka Mindnich , Sandra Orchard , Trevor M Penning , Janet M Thornton , Jerzy Adamski , Udo Oppermann	2009-03-16	-

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