UNC79

Last update 08 May 2025

Basic Info

Synonyms

KIAA1409, Protein unc-79 homolog, unc-79 homolog, NALCN channel complex subunit

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Introduction

Auxiliary subunit of the NALCN sodium channel complex, a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability. Activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current.

100 Clinical Results associated with UNC79

100 Translational Medicine associated with UNC79

0 Patents (Medical) associated with UNC79

Literatures (Medical) associated with UNC79

01 Jan 2024·Physiological Reviews

New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN

Review

Author: Guérineau, Nathalie C. ; Gil-Nagel, Antonio ; Lory, Philippe ; Parra-Diaz, Paloma ; Monteil, Arnaud ; Senatore, Adriano

Cell excitability and its modulation by hormones and neurotransmitters involve the concerted action of a large repertoire of membrane proteins, especially ion channels. Unique complements of coexpressed ion channels are exquisitely balanced against each other in different excitable cell types, establishing distinct electrical properties that are tailored for diverse physiological contributions, and dysfunction of any component may induce a disease state. A crucial parameter controlling cell excitability is the resting membrane potential (RMP) set by extra- and intracellular concentrations of ions, mainly Na+, K+, and Cl−, and their passive permeation across the cell membrane through leak ion channels. Indeed, dysregulation of RMP causes significant effects on cellular excitability. This review describes the molecular and physiological properties of the Na+ leak channel NALCN, which associates with its accessory subunits UNC-79, UNC-80, and NLF-1/FAM155 to conduct depolarizing background Na+ currents in various excitable cell types, especially neurons. Studies of animal models clearly demonstrate that NALCN contributes to fundamental physiological processes in the nervous system including the control of respiratory rhythm, circadian rhythm, sleep, and locomotor behavior. Furthermore, dysfunction of NALCN and its subunits is associated with severe pathological states in humans. The critical involvement of NALCN in physiology is now well established, but its study has been hampered by the lack of specific drugs that can block or agonize NALCN currents in vitro and in vivo. Molecular tools and animal models are now available to accelerate our understanding of how NALCN contributes to key physiological functions and the development of novel therapies for NALCN channelopathies.

01 Sep 2023·Genetics in Medicine

A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Article

Author: Gourfinkel-An, Isabelle ; Cogne, Benjamin ; Perrine, Charles ; Musante, Luciana ; Bayat, Allan ; Zanus, Caterina ; Isidor, Bertrand ; Larson, Austin ; Luo, Sheng ; Liao, Weiping ; Fenger, Christina D ; Lesca, Gaeton ; Demily, Caroline ; Keren, Boris ; Faletra, Flavio ; Liu, Zhenjiang ; Ren, Dejian ; Højte, Anne F

PURPOSEThe "NALCN channelosome" is an ion channel complex that consists of multiple proteins, including NALCN, UNC79, UNC80, and FAM155A. Only a small number of individuals with a neurodevelopmental syndrome have been reported with disease causing variants in NALCN and UNC80. However, no pathogenic UNC79 variants have been reported, and in vivo function of UNC79 in humans is largely unknown.METHODSWe used international gene-matching efforts to identify patients harboring ultrarare heterozygous loss-of-function UNC79 variants and no other putative responsible genes. We used genetic manipulations in Drosophila and mice to test potential causal relationships between UNC79 variants and the pathology.RESULTSWe found 6 unrelated and affected patients with UNC79 variants. Five patients presented with overlapping neurodevelopmental features, including mild to moderate intellectual disability and a mild developmental delay, whereas a single patient reportedly had normal cognitive and motor development but was diagnosed with epilepsy and autistic features. All displayed behavioral issues and 4 patients had epilepsy. Drosophila with UNC79 knocked down displayed induced seizure-like phenotype. Mice with a heterozygous loss-of-function variant have a developmental delay in body weight compared with wild type. In addition, they have impaired ability in learning and memory.CONCLUSIONOur results demonstrate that heterozygous loss-of-function UNC79 variants are associated with neurologic pathologies.

01 Jul 2023·American Journal of Medical Genetics Part A

Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum

Author: Sayili, Ebrar Tuba ; Kaya, Mahsum ; Kelesoglu, Fatih M

AbstractNALCN channelosome complex contributes to maintaining resting membrane potential. The complex has four domains including two intracellular domains (UNC79 and UNC80), one transmembrane domain (NALCN) and one extracellular domain (FAM155A). Mutations in UNC80 were previously linked to infantile hypotonia with psychomotor retardation and characteristics facies 2. A 6‐year‐old male with neurodevelopmental disorder was referred for clinical exome sequencing. Sanger sequencing was conducted for variant confirmation and segregation analysis. The index had severe to profound neurodevelopmental delay, progressive failure to thrive, severe constipation and reflux, and sociable skills. Trio exome sequencing identified a homozygous c.6495G > A change causing p.Trp2165Ter in UNC80 in the proband. The variant was novel and predicted to be deleterious. We reported a novel nonsense mutation in UNC80. Our case also established the association between, and sociable skills and severe gastrointestinal problems.

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