Last update 01 Nov 2024

ABCC9

Last update 01 Nov 2024

Basic Info

Synonyms

ABCC9, ATP binding cassette subfamily C member 9, ATP-binding cassette sub-family C member 9

+ [4]

Introduction

Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.

Drugs associated with ABCC9

Minoxidil

Target

ABCC9 x Kir6.2

Mechanism

ABCC9 agonists [+1]

Active Org.

JOHNSON AND JOHNSON GROUP CONSUMER COMPANIES [+4]

Originator Org.

Pfizer Inc.

Active Indication

Hypertension [+4]

Inactive Indication-

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date18 Oct 1979

VU-0542270

Target

ABCC9 x KCNJ8

Mechanism

ABCC9 inhibitors [+1]

Active Org.

Vanderbilt University

Originator Org.

Vanderbilt University

Active Indication

Cardiovascular Diseases

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

148

Clinical Trials associated with ABCC9

ChiCTR2400088536 / SuspendedIIT

Clinical study of new polymer polylactic acid microneedle combined with 5% minoxidil application for the treatment of male androgenetic alopecia

Start Date31 Oct 2024

Sponsor / Collaborator

China-Japan Friendship Hospital

CTRI/2024/10/074861 / Not yet recruitingNot Applicable

Compare the safety and efficacy of Tugain Eva (minoxidil 5 percent solution fortified with 0.0033 percent melatonin) with Tugain solution (minoxidil 5 percent solution) in female pattern hair loss - NIL

Start Date15 Oct 2024

Sponsor / Collaborator

Cipla Ltd.

CTRI/2024/09/073394 / Not yet recruitingPhase 1IIT

Efficacy of autologous Growth Factor Concentrate injection and Platelet Rich Plasma injection in patients of Androgenic Alopecia receiving topical minoxidil: A randomized control trial - NIL

Start Date22 Sep 2024

Sponsor / Collaborator-

100 Clinical Results associated with ABCC9

100 Translational Medicine associated with ABCC9

0 Patents (Medical) associated with ABCC9

221

Literatures (Medical) associated with ABCC9

10 Oct 2024·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene].

Article

Author: Li, Yingying ; Wang, Fangjie ; Yao, Xiaoli ; Hou, Weina ; He, Kun ; Xiao, Mengjun

OBJECTIVETo explore the clinical characteristics and pathogenic variant in a child with Cantú syndrome (CS).METHODSA male who was admitted to the Children's Hospital Affiliated to Zhengzhou University on February 23, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole-exome sequencing (WES). Candidate variant was verified by Sanger sequencing. This study was approved by the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-087).RESULTSThe child, a 3-year-and-2-month-old male, was born with hirsutism, with heavy hair all over the body and peculiar facial features. Routine echocardiography 1 month before had discovered atrial septal defect. Sequencing revealed that the child has harbored a heterozygous c.2438G>C (p.S813T) variant of the ABCC9 gene, which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.2438G>C variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3).CONCLUSIONThe heterozygous c.2438G>C variant of the ABCC9 gene probably underlay the pathogenesis of CS in this child.

10 Sep 2024·JCI Insight

Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome

Article

Author: Yamasaki, Evan ; Radi, Rafael ; Lavanderos, Boris ; Nichols, Colin G ; Metwally, Elsayed ; Earley, Scott ; McClenaghan, Conor ; Feng Earley, Yumei ; Rios, Natalia ; Thakore, Pratish ; Sanchez Solano, Alfredo

Cantú syndrome is a multisystem disorder caused by gain-of-function (GOF) mutations in KCNJ8 and ABCC9, the genes encoding the pore-forming inward rectifier Kir6.1 and regulatory sulfonylurea receptor SUR2B subunits, respectively, of vascular ATP-sensitive K+ (KATP) channels. In this study, we investigated changes in the vascular endothelium in mice in which Cantú syndrome-associated Kcnj8 or Abcc9 mutations were knocked in to the endogenous loci. We found that endothelium-dependent dilation was impaired in small mesenteric arteries from Cantú mice. Loss of endothelium-dependent vasodilation led to increased vasoconstriction in response to intraluminal pressure or treatment with the adrenergic receptor agonist phenylephrine. We also found that either KATP GOF or acute activation of KATP channels with pinacidil increased the amplitude and frequency of wave-like Ca2+ events generated in the endothelium in response to the vasodilator agonist carbachol. Increased cytosolic Ca2+ signaling activity in arterial endothelial cells from Cantú mice was associated with elevated mitochondrial [Ca2+] and enhanced reactive oxygen species (ROS) and peroxynitrite levels. Scavenging intracellular or mitochondrial ROS restored endothelium-dependent vasodilation in the arteries of mice with KATP GOF mutations. We conclude that mitochondrial Ca2+ overload and ROS generation, which subsequently leads to nitric oxide consumption and peroxynitrite formation, cause endothelial dysfunction in mice with Cantú syndrome.

01 Sep 2024·Ultrasound in Obstetrics & Gynecology

EP18.19: Prenatal diagnosis of Cantú syndrome during the second trimester due to a novel ABCC9 pathogenic variant: a case report

Article

Author: D'Ambrosio, V. ; Grammatico, P. ; Bottillo, I. ; Rizzo, G. ; Giancotti, A. ; Vasta, A. ; Di Mascio, D. ; Formicola, D. ; Bacigalupo, F. ; Pizzuti, A.

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ABCC9

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