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51327 AHSP

51327

AHSP

alpha hemoglobin stabilizing protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition alpha hemoglobin stabilizing protein

研究结论

Date Results Publications
2019-07-27 13:14:00 The study documents that among the HbE beta thalassemia patients with varying severity, an exon mutation in AHSP is significantly prevalent only among the transfusion-dependent beta-thalassemia patients. 31190133
2017-11-25 14:07:00 In the presence of free alpha subunits and H2O2, both HbA and HbE showed bCys93 oxidation which increased with higher H2O2 concentrations. In the presence of Alpha-hemoglobin stabilizing protein (AHSP)Cys93 oxidation was substantially reduced in both proteins.in the presence of excess free alpha-subunit and under the same oxidative conditions, these events are substantially increased for HbE compared to HbA 26995402
2017-08-19 12:21:00 Findings indicate that alpha-hemoglobin-stabilizing protein (AHSP) expression is a biomarker of hemoglobin H (HbH) disease severity and infer an important role of AHSP in modulating the pathophysiology of this disease. 28337528
2016-09-17 10:14:00 AHSP is predominantly expressed in erythroid precursors in bone marrow biopsy specimens from patients with hematologic malignancies. 25611244
2016-07-30 11:49:00 AHSP expression was higher in patients with sickle cell anemia versus thalassemia, with no significant difference between BTM and BTI. Expression was higher in patients with NTDT and on hydroxyurea therapy. 26460260

名称对应

Type IDs
Synonymous EDRF, ERAF
Gene
UniProtKB-ID: AHSP_HUMAN, Q549J4_HUMAN
UniprotKB: Q9NZD4, Q549J4
UniParc: UPI0000001C48
EMBL: AF364517, AF208865, AY072612, AF485325, CH471192, BC035842, AF112995
Ensembl: ENSG00000169877
KO: hsa:51327
Nucleutide sequences
EMBL-CDS: AAL82894.1, AAH35842.1, AAK50856.1, AAF64279.1, AAO49381.1, EAW52118.1, AAP97228.1
Gene_ORFName: hCG_1772004
Ensembl_TRS: ENST00000302312
Protein sequencees
Ensembl_PRO: ENSP00000307199
RefSeq: NP_057717.1, NP_001305150.1, NP_001305151.1
Others
UniRef100: UniRef100_Q9NZD4
UniRef90: UniRef90_Q9NZD4
UniRef50: UniRef50_Q9NZD4
UniGene: Hs.274309
CCDS: CCDS10716.1

全选

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