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14421 B4galnt1

14421

B4galnt1

beta-1,4-N-acetyl-galactosaminyl transferase 1

protein-coding

Mus musculus

基因描述

Type Description
Definition beta-1,4-N-acetyl-galactosaminyl transferase 1

研究结论

Date Results Publications
2019-03-09 11:36:00 Study analyzed enzyme activity and intracellular localization of the products of mutant cDNAs from eleven cases of hereditary spastic paraplegia with mutation in the coding region of B4GALNT1, and noted a lack of enzyme activity in a majority of them except two family cases. Then compared profiles of clinical findings of patients with hereditary spastic paraplegia and abnormal phenotypes of B4galnt-KO mice. 30521973
2018-01-06 10:57:00 We used GM2/GD2 synthase (B4galnt1)-deficient mice to immunize by liposomes embedded with GD1alpha or acidic glycolipid fractions from brain of St3gal5-deficient mice. Specificities of established mAbs as analyzed by enzyme-linked immunosorbent assay and thin-layer chromatography-immunostaining were very high among various gangliosides. 27102283
2016-04-30 11:30:00 GM2 elevation is associated with activation of microglia and astrocytes in the injured developing brain, and GM2, GD2, or other downstream gangliosides may regulate astroglial responses in ethanol-induced neurodegeneration 26063460
2014-12-06 11:21:00 This study demonistrated that Ganglioside deficiency(B4galnt1 and ST8SIA1 knockout mice causes inflammation and neurodegeneration via the activation of complement system in the spinal cord. 24673754
2013-04-20 10:29:00 Galgt1 is required for presynaptic expression of the CT carbohydrate at the neuromuscular junction. 22982027

名称对应

Type IDs
Synonymous 4933429D13Rik, Gal-NAc-T, GalNAc-T, GalNAcT, Galgt1, Ggm-2, Ggm2
Gene
UniProtKB-ID: B4GN1_MOUSE, Q3UN35_MOUSE, Q8VDF0_MOUSE, A0A1Z4EAV4_MOUSE
UniprotKB: Q09200, Q3UN35, Q8VDF0, A0A1Z4EAV4
UniParc: UPI0000001ABA, UPI000154BEA4, UPI00000E837C
EMBL: BC036996, BC057199, U18975, AK144484, LC273292, L25885, BC022180
Ensembl: ENSMUSG00000006731
KO: mmu:14421
Nucleutide sequences
EMBL-CDS: AAH57199.1, AAA85496.1, AAA65027.1, AAH36996.1, BAE25913.1, AAH22180.1, BAX90093.1
Ensembl_TRS: ENSMUST00000006914
Protein sequencees
Ensembl_PRO: ENSMUSP00000006914
RefSeq: NP_082015.2, NP_032106.1, XP_017169292.1, NP_001231546.1, NP_001345506.1, XP_006513282.1, NP_001345507.1, NP_001231547.1
Others
UniRef100: UniRef100_Q8VDF0, UniRef100_Q09200
UniRef90: UniRef90_Q8VDF0, UniRef90_Q09200
UniRef50: UniRef50_Q00973, UniRef50_Q00973-3
UniGene: Mm.386762
CCDS: CCDS24230.1

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