XK

Last update 08 May 2025

Basic Info

Synonyms

Endoplasmic reticulum membrane adapter protein XK, Kell complex 37 kDa component, Kx

+ [10]

Introduction

Recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane.

100 Clinical Results associated with XK

100 Translational Medicine associated with XK

0 Patents (Medical) associated with XK

261

Literatures (Medical) associated with XK

01 Jul 2025·Microbiological Research

Functional characterization of Mrr-family nuclease SLL1429 involved in MMC and phage resistance

Article

Author: Zhang, Pengfei ; Zhang, Jiayu ; Gu, Yanchao ; Shen, Xihui ; Xu, Jingling ; Zhao, Yufei ; Yang, Wenguang ; Yang, Yantao ; Zhang, Wenjing ; Jin, Han ; Wang, Yao ; Han, Xiaoru

Cyanobacteria, autotrophic prokaryotes capable of oxygenic photosynthesis, are important atmospheric carbon fixers of Earth and potential alternatives for producing green fuels and chemicals. However, they face significant environmental stress during growth, such as Ultraviolet radiation, salt, and cyanophage exposure, which can impact their physiology and growth. Nucleases, such as Mrr (Methylated adenine Recognition and Restriction) endonuclease, play key roles in stress response, DNA repair, or anti-phage functions, but these in cyanobacteria remains underexplored. The SLL1429 protein with Mrr/NA-iREase1 domain was predicted to play a role as a nuclease in stress resistance in cyanobacteria. In this study, our findings indicate that SLL1429 is a PD-(D/E)XK superfamily nuclease with DNase activities towards various DNA structures, including dsDNA, Holliday junction, Flap and Flap derivatives. The nuclease activity of SLL1429 is dependent on the Mrr domain. However, unlike classic Mrr, SLL1429 recognizes and cleaves both methylated and unmethylated DNA substrates. Notably, SLL1429 plays a role in Mitomycin C (MMC) resistance in Synechocystis sp. PCC6803 and anti-phage activity in E. coli. In view of the above, SLL1429 of Synechocystis sp. PCC6803 has been identified as a new stress-resistant nuclease. This discovery provides novel perspectives on the mechanism of environmental adaption in cyanobacteria and lays a theoretical foundation for further exploration of "microbial cell factory".

01 May 2025·Pediatric Transplantation

Hematopoietic Cell Transplantation in a Patient With X‐Linked Chronic Granulomatous Disease With McLeod Phenotype

Article

Author: Matsumoto, Kimikazu ; Tomizawa, Daisuke ; Nakabayashi, Kazuhiko ; Iguchi, Akihiro ; Uchiyama, Toru ; Fujimori, Kentaro ; Onodera, Masafumi ; Kawai, Toshinao ; Gocho, Yoshihiro ; Ishikawa, Takashi ; Sakaguchi, Hirotoshi ; Shimizu, Soichiro

ABSTRACTBackgroundX‐linked chronic granulomatous disease (X‐CGD) may be associated with McLeod syndrome (MLS) as a contiguous gene deletion syndrome. MLS is characterized by the loss of XK protein along with Kx antigen on red blood cell (RBC) surfaces and late‐onset neurocognitive symptoms. RBCs in healthy donors express XK protein and related Kx antigen on the surface; therefore, transfusion from random donors to patients with MLS poses a risk of Kx sensitization, leading to severe hemolysis. As the radical treatment of X‐CGD is hematopoietic cell transplantation (HCT), treating patients with coexisting X‐CGD and MLS is extremely challenging.MethodA retrospective chart review was completed for a case of X‐CGD associated with MLS who underwent HCT.ResultA 7‐year‐old boy with X‐CGD and MLS underwent HCT from a matched unrelated donor (human leukocyte antigen, 7/8 matched). Rituximab was added to busulfan‐based reduced intensity conditioning to prevent Kx sensitization. Donor RBCs were depleted from the bone marrow before infusion to prevent Kx sensitization. Neutrophil engraftment was achieved on day +19 with full donor chimerism. No hemolytic events occurred, and he is living well 2 years after HCT.ConclusionWe were able to safely perform transplantation in a patient with X‐CGD and MLS by adding rituximab and depleting RBCs from the donor bone marrow. The long‐term impact of HCT on MLS is unclear. However, HCT may improve prognosis and quality of life by reducing recurrent infections caused by X‐CGD. Moreover, this HCT method is non‐invasive, relatively simple, and easily implementable.

01 Feb 2025·Cardiology in the Young

Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy

Article

Author: Blackstone, William Z ; Shwaish, Natalie S ; Malaguit, Seth E ; Frandsen, Erik L

AbstractDilated cardiomyopathy is an expected manifestation and common cause of death in patients with Duchenne muscular dystrophy. We present an unusually rapid progression of cardiomyopathy in a boy with Duchenne muscular dystrophy. Expanded genetic testing revealed a contiguous Xp21 deletion involving dystrophin and XK genes, responsible for Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome, respectively, resulting in a more severe cardiac phenotype.

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