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9453 GGPS1

9453

GGPS1

geranylgeranyl diphosphate synthase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition geranylgeranyl diphosphate synthase 1

研究结论

Date Results Publications
2020-12-12 13:27:00 GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. 32403198
2020-09-26 13:07:00 Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). 32399598
2019-11-09 11:07:00 Overexpression of GGPPS correlates with poor prognosis of lung adenocarcinoma and contributes to metastasis through regulating epithelial-mesenchymal transition. 29377583
2019-11-02 11:00:00 the impact of the mutated GGPPS and the relevance of the downstream effects in bone cells make it a strong candidate for Atypical femoral fractures susceptibility. 30184270
2017-07-08 10:08:00 results may support a model in which accumulation of susceptibility variants (including some in relevant genes, notably GGPS1) may lead to a possible genetic component of predisposition to atypical femoral fractures. 28467865

名称对应

Type IDs
Synonymous GGPPS, GGPPS1
Gene
UniProtKB-ID: GGPPS_HUMAN, A0A024R3R2_HUMAN
UniprotKB: O95749, A0A024R3R2
UniParc: UPI000012B3FB, UPI000040E13B
EMBL: AB019036, AL391994, AB017971, AF125394, CH471098, BC005252, AK293278, BC067768, AF057698, AB016043
Ensembl: ENSG00000152904
KO: hsa:9453
Nucleutide sequences
EMBL-CDS: BAH11480.1, EAW70018.1, BAA77251.1, BAA76511.1, AAH67768.1, AAH05252.1, BAA75909.1, AAD43050.1, EAW70020.1, AAG45581.1, EAW70017.1, EAW70019.1, EAW70016.1
Gene_ORFName: hCG_19067
Ensembl_TRS: ENST00000282841, ENST00000391855, ENST00000358966, ENST00000488594
Protein sequencees
Ensembl_PRO: ENSP00000375728, ENSP00000282841, ENSP00000351852, ENSP00000418690
RefSeq: NP_001032354.1, NP_001358407.1, NP_004828.1, NP_001032355.1, NP_001358406.1
Others
UniRef100: UniRef100_O95749
UniRef90: UniRef90_O95749
UniRef50: UniRef50_O95749
UniGene: Hs.730768
CCDS: CCDS1604.1

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