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Last update 08 May 2025

SLC45A2

Last update 08 May 2025

Basic Info

Synonyms

AIM-1, AIM1, MATP

+ [8]

Introduction

Proton-associated glucose and sucrose transporter (By similarity). May be able to transport also fructose (By similarity). Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by decreasing glycolysis (PubMed:32966160, PubMed:35469906). Regulates melanogenesis by maintaining melanosome neutralization that is initially initiated by transient OCA2 and required for a proper function of the tyrosinase TYR (PubMed:32966160, PubMed:35469906).

Drugs associated with SLC45A2

Autologous CD8+ SLC45A2-Specific T Lymphocytes(The University of Texas MD Anderson Cancer Center)

Target

SLC45A2

Mechanism

SLC45A2 modulators

Active Org.

The University of Texas MD Anderson Cancer Center

Originator Org.

The University of Texas MD Anderson Cancer Center

Active Indication-

Inactive Indication-

Drug Highest PhasePhase 1

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with SLC45A2

NCT03068624

/ Active, not recruitingPhase 1IIT

Phase Ib Study of Cellular Adoptive Immunotherapy Using Autologous Cd8+ Antigen-Specific T Cells and Anti-Ctla4 for Patients With Metastatic Uveal Melanoma

This phase Ib trial studies the side effects and best dose of autologous CD8 positive (+) SLC45A2-specific T lymphocytes when given together with cyclophosphamide, aldesleukin, and ipilimumab, and to see how well they work in treating patients with uveal melanoma that has spread to other places in the body (metastatic). To make specialized CD8+ T cells, researchers separate out T cells collected from patients' blood and treat them so they are able to target melanoma cells. The blood cells are then given back to the patients. This is known as "adoptive T cell transfer" or "adoptive T cell therapy." Drugs used in chemotherapy, such as cyclophosphamide, may work in different ways to stop the growth of tumor cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Biological therapies, such as aldesleukin, use substances made from living organisms that may stimulate the immune system in different ways and stop tumor cells from growing. Immunotherapy with monoclonal antibodies, such as ipilimumab, may help the body's immune system attack the cancer, and may interfere with the ability of tumor cells to grow and spread. Giving autologous CD8+ SLC45A2-specific T lymphocytes together with cyclophosphamide, aldesleukin, and ipilimumab may work better in treating patients with metastatic uveal melanoma.

Start Date08 Sep 2017

Sponsor / Collaborator

The University of Texas MD Anderson Cancer Center

[+1]

100 Clinical Results associated with SLC45A2

100 Translational Medicine associated with SLC45A2

0 Patents (Medical) associated with SLC45A2

431

Literatures (Medical) associated with SLC45A2

01 May 2025·International Journal of Biological Macromolecules

Evidence for biomolecular condensates formed by the Escherichia coli MatP protein in spatiotemporal regulation of the bacterial cell division cycle

Article

Author: Luque-Ortega, Juan Román ; Zorrilla, Silvia ; Margolin, William ; Sobrinos-Sanguino, Marta ; Rivas, Germán ; Barros-Medina, Inés ; Alfonso, Carlos ; Monterroso, Begoña ; Robles-Ramos, Miguel Ángel

An increasing number of proteins involved in bacterial cell cycle events have been recently shown to form biomolecular condensates important for their functions that may play a role in development of antibiotic-tolerant persister cells. Here we report that the E. coli chromosomal Ter macrodomain organizer MatP, a division site selection protein coordinating chromosome segregation with cell division, formed biomolecular condensates in crowding cytomimetic systems preferentially localized at the membrane of microfluidics droplets. Condensates were antagonized and partially dislodged from the membrane by DNA sequences recognized by MatP (matS), which partitioned into them. FtsZ, a core component of the division machinery previously described to phase-separate, unexpectedly enhanced MatP condensation. Our biophysical analyses uncovered direct interaction between both proteins, disrupted by matS. This may have potential implications for midcell FtsZ ring positioning by the Ter-linkage, which comprises MatP and two other proteins bridging the canonical MatP-FtsZ interaction. FtsZ/MatP condensates interconverted with GTP-triggered bundles, suggesting that local fluctuations of GTP concentrations may regulate FtsZ/MatP phase separation. Consistent with discrete MatP foci previously reported in cells, phase separation might influence MatP-dependent chromosome organization, spatiotemporal coordination of cytokinesis and DNA segregation, which is potentially relevant for cell entry into dormant states that can resist antibiotic treatments.

01 May 2025·Pigment Cell & Melanoma Research

The Role of Two Tyrosinase‐Like Glycoenzymes in Defining the Final Hue of Parrot Plumage

Article

Author: Abdu, Uri ; Brejcha, Jindřich ; Mojzeš, Peter ; Ghosh Roy, Shatadru ; Abdu, Moty

ABSTRACTRecent advances in avian melanogenesis have pinpointed multiple genetic loci associated with color polymorphisms, predominantly in the plumage of chickens, quails, and pigeons. However, the genetic basis of melaninization in parrot plumage remains elusive. Previously, we showed that mutations in the melanosomal ion‐transporter SLC45A2 lead to a complete loss of blue structural color in green parrot feathers, leaving only yellow psittacofulvin. Yet, several color morphs involving partial or complete melanin reduction are common in captive‐bred parrots that have not been studied. To bridge this gap, we investigated two new color morphs of parrot plumage: non‐sex‐linked recessive lutino (NSL), which entirely inhibits blue structural coloration, and the sex‐linked recessive cinnamon, which reduces the intensity of blue structural coloration. Our genotypic analysis revealed that tyrosinase (TYR) variants are responsible for the NSL phenotype in Fischer's lovebird and green‐cheeked parakeet, while tyrosinase related protein 1 (TYRP1) variants are associated with the cinnamon phenotype in the rose‐ringed parakeet. When transfected into HEK293T cells, the candidate substitutions significantly affected tyrosinase enzymatic activity. This study underscores tyrosinase and related enzymes' role in parrot feather coloration, enhancing our understanding of avian melanogenesis as well as the conserved functions of melanogenic components across different species.

01 May 2025·Pigment Cell & Melanoma Research

Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA‐4): Clinical and Functional Features From A Chinese Family

Article

Author: Zhang, Yingzi ; Yang, Qingsong ; Wei, Aihua ; Li, Wei ; Liu, Teng ; Hu, Xuyun

ABSTRACTOculocutaneous albinism (OCA) is a complex genetic disorder characterized by reduced or absent pigmentation in the skin, hair, and eyes. Among the eight known subtypes, OCA‐4 is caused by a mutation in SLC45A2, which plays a crucial role in melanin biosynthesis. While autosomal recessive inheritance is the most common pattern for all OCA subtypes, autosomal dominant cases are extremely rare. We report three patients from a Chinese family exhibiting autosomal dominant OCA‐4. Clinical assessments evaluated pigmentation and ocular features in affected family members. Next‐generation sequencing was performed to identify pathogenic variants, and functional studies in MNT‐1 cells were performed to explore the variant's biological effects. Patients exhibited mild hypopigmentation and foveal hypoplasia, consistent with the OCA‐4 phenotype. Genetic analysis identified a heterozygous c.208T>C (p.Tyr70His) variant in SLC45A2, the same variant that has been previously reported in association with autosomal dominant OCA‐4. Functional studies demonstrated that this variant caused protein retention in the endoplasmic reticulum, resulting in reduced melanin production. This family represents the first documented cases of autosomal dominant OCA‐4 in the Chinese population and only the second reported worldwide. Our findings confirm that the p.Tyr70His variant causes autosomal dominant OCA‐4. This study deepens our understanding of OCA‐4's genetic mechanisms and increases the complexity of its inheritance patterns in genetic counseling.

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SLC45A2

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