HGSNAT - heparan-alpha-glucosaminide N-acetyltransferase-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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138050 HGSNAT

基因描述

Type	Description
Definition	heparan-alpha-glucosaminide N-acetyltransferase

研究结论

Date	Results	Publications
2020-04-04 12:39:00	Study reports molecular analysis defects in the HGSNAT gene in the largest group of mucopolysaccharidosis type IIIC (MPSIIIC) patients studied so far increasing the total number of HGSNAT variants associated with MPSIIIC to 71. Additionally, some of these variants show common ancestor haplotypes; others are several founder mutations.	31228227
2017-07-08 13:02:00	A homozygous variant in HGSNAT identified in two siblings with Kluver-Bucy syndrome and Mucopolysaccharidosis type IIIC.	27827379
2017-02-18 10:26:00	Promoter variants rs4523300 and rs149596192 did not have a measurable impact on HGSNAT enzyme activity in MPS IIIC patients carrying them.	27452122
2016-04-30 12:12:00	Mutation id HGSNAT is associated with non-syndromic retinitis pigmentosa .	25859010
2013-08-31 10:24:00	Identification of novel HGSNAT mutations in Sanfilippo syndrome type C Spanish patients.	20825431

名称对应

Type	IDs
Synonymous	HGNAT, MPS3C, RP73, TMEM76
Gene	UniProtKB-ID: HGNAT_HUMAN, Q8IVU6_HUMAN UniprotKB: Q68CP4, Q8IVU6 UniParc: UPI00000745BF, UPI0000ED91E4, UPI000057A06E EMBL: AK304441, BC042037, CR749838, AC113191 Ensembl: ENSG00000165102 KO: hsa:138050
Nucleutide sequences	EMBL-CDS: CAH18694.1, BAG65262.1, AAH42037.1 Ensembl_TRS: ENST00000379644
Protein sequencees	Ensembl_PRO: ENSP00000368965 RefSeq: XP_005273468.1, XP_005273466.1, NP_689632.2, NP_001350158.1, NP_001350156.1, XP_005273469.1, NP_001350157.1
Others	UniRef100: UniRef100_Q68CP4, UniRef100_E5RJC4 UniRef90: UniRef90_E5RJC4, UniRef90_Q68CP4 UniRef50: UniRef50_E5RJC4, UniRef50_Q68CP4 UniGene: Hs.600384 CCDS: CCDS47852.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
33144569	A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. Nat Commun Dick J H van den Boomen , Agata Sienkiewicz , Ilana Berlin , Marlieke L M Jongsma , Daphne M van Elsland , J Paul Luzio , Jacques J C Neefjes , Paul J Lehner	2020-11-03	-
31228227	Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease. Hum. Mutat. Carla Martins , Paula Frassinetti V de Medeiros , Sandra Leistner-Segal , Larbi Dridi , Nursel Elcioglu , Jill Wood , Mahdiyeh Behnam , Bilge Noyan , Lucia Lacerda , Michael T Geraghty , Damian Labuda , Roberto Giugliani , Alexey V Pshezhetsky	2019-08-01	-
27827379	KlÃ¼ver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). Eur. J. Hum. Genet. Hao Hu , Christoph HÃ¼bner , Zoltan Lukacs , Luciana Musante , Esther Gill , Thomas F Wienker , Hans-Hilger Ropers , Ellen Knierim , Markus Schuelke	2017-02-01	-
27452122	HGSNAT has a TATA-less promoter with multiple starts of transcription. Gene Eva Richtrova , Lenka S Mrazova , Dita Musalkova , Ondrej Luksan , Larisa Stolnaya , Jakub Minks , Jan Lukas , Lenka Dvorakova , Milan Jirsa , Martin Hrebicek	2016-10-30	-
25859010	Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Hum. Mol. Genet. Lonneke Haer-Wigman , Hadas Newman , Rina Leibu , Nathalie M Bax , Hagit N Baris , Leah Rizel , Eyal Banin , Amir Massarweh , Susanne Roosing , Dirk J Lefeber , Marijke N Zonneveld-Vrieling , Ofer Isakov , Noam Shomron , Dror Sharon , Anneke I Den Hollander , Carel B Hoyng , Frans P M Cremers , Tamar Ben-Yosef	2015-07-01	Hgsnat, HGSNAT
20825431	Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin. Genet. I Canals , S C Elalaoui , M Pineda , V Delgadillo , M Szlago , I C Jaouad , A Sefiani , A ChabÃ¡s , M J Coll , D Grinberg , L Vilageliu	2011-10-01	HGSNAT
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	-
21957468	Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC. PLoS ONE Xiaolian Fan , Ilona Tkachyova , Ankit Sinha , Brigitte Rigat , Don Mahuran	2011-01-01	HGSNAT
20650889	Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. J Biol Chem StÃ©phanie Durand , Matthew Feldhammer , Eric Bonneil , Pierre Thibault , Alexey V Pshezhetsky	2010-10-08	-
20583299	Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). Hum. Mutat. Anthony O Fedele , John J Hopwood	2010-07-01	HGSNAT

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