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56172 ANKH

56172

ANKH

ANKH inorganic pyrophosphate transport regulator

protein-coding

Homo sapiens

基因描述

Type Description
Definition ANKH inorganic pyrophosphate transport regulator

研究结论

Date Results Publications
2021-01-09 13:28:00 Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. 32366894
2020-07-18 10:30:00 We used human vascular smooth muscle cells (VSMCs) and a rat model of chronic renal failure (CRF), and observed a native protective mechanism by which VC is reduced via the activation of Wnt1 and its transcriptional target ANKH inorganic pyrophosphate transport regulator (ANKH) gene 31356809
2019-11-23 12:49:00 ANK/ANKH protein carrying craniometaphyseal dysplasia mutations is present only at low levels due to rapid protein degradation. Decreased amounts of functional ANKH and improper subcellular localization are likely to contribute to CMD although these findings do not fully explain the pathogenic mechanisms seen in patients or the mouse model. 30356088
2018-08-04 11:19:00 Craniometaphyseal dysplasia mutations in ANKH diminish hiPSC differentiation into osteoclasts in vitro. 29056330
2018-02-03 11:27:00 our findings demonstrate that the miR-20a/ANKH axis mediates the stiff matrix- promoted CEP calcification, suggesting that miR-20a and ANKH are potential targets in restraining the progression of IDD. 27142968

名称对应

Type IDs
Synonymous ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, SLC62A1
Gene
UniProtKB-ID: ANKH_HUMAN
UniprotKB: Q9HCJ1
UniParc: UPI000003F535, UPI000015F3B5
EMBL: AK315012, AC016575, BC009835, CH471102, BC014526, AK001799, AF274753, AC010491, AY358503, AC025456, AB046801
Ensembl: ENSG00000154122
KO: hsa:56172
Nucleutide sequences
EMBL-CDS: EAX08034.1, AAQ88867.1, EAX08035.1, AAF88039.1, AAH14526.1, BAB13407.1, BAG37504.1, BAG50976.1, AAH09835.1
Gene_ORFName: UNQ241/PRO274
Ensembl_TRS: ENST00000284268
Protein sequencees
Ensembl_PRO: ENSP00000284268
RefSeq: XP_016865133.1, NP_473368.1, XP_011512369.1
Others
UniRef100: UniRef100_Q9HCJ1
UniRef90: UniRef90_Q9HCJ1
UniRef50: UniRef50_Q9HCJ1
UniGene: Hs.156727
CCDS: CCDS3885.1

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