CABP4

Last update 08 May 2025

Basic Info

Synonyms

CABP4, calcium binding protein 4, Calcium-binding protein 4

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Introduction

Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity).

100 Clinical Results associated with CABP4

100 Translational Medicine associated with CABP4

0 Patents (Medical) associated with CABP4

Literatures (Medical) associated with CABP4

15 Apr 2025·Investigative Ophthalmology & Visual Science

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome

Article

Author: Hartmann, E. Eugenie ; Hanna, Nancy N. ; Gong, Xiaoming ; Flickinger, Aaron ; Wall, Palak B. ; Boydstun, Ian P. ; Hertle, Richard W. ; Lawhon, William T.

PurposeInfantile nystagmus syndrome (INS), the most prevalent form of nystagmus in children, often indicates underlying ocular and neurological conditions. Genetic assessment plays a crucial role in clinical management, genetic counseling, and access to emerging gene-based therapies. This study aims to characterize the clinical and genetic landscape of inherited ocular diseases (IODs) in children with INS.MethodsWe retrospectively analyzed clinical and genetic data from 205 unrelated pediatric patients with INS enrolled in an IRB-approved nystagmus registry (2010-2024). All underwent next-generation sequencing (NGS) with targeted gene panels to detect pathogenic variants.ResultsThe cohort comprised 117 males and 88 females (mean [SD] age, 8.85 [10.37] years). The most common INS-associated IODs included albinism (32%), Leber congenital amaurosis (LCA) (14%), and achromatopsia (14%). Genetic testing achieved a definitive diagnosis in 85 of 205 patients, yielding a molecular diagnostic rate of 41.5%. A total of 83 pathogenic and likely pathogenic variants were identified across 30 genes. The seven most frequently disease-causing genes-TYR, CNGB3, RPGR, GPR143, ABCA4, OCA2 and FRMD7-accounted for 65% of the genetically solved cases. Additionally, eight genes associated with LCA (AIPL1, CABP4, GUCY2D, IMPDH1, NMNAT1, RDH12, PRPH2, and RPGRIP1) contributed to 15% of these cases.ConclusionsThis study underscores the utility of NGS in diagnosing INS-associated IODs, providing essential insights for targeted interventions and identifying patients as candidates potentially eligible for ongoing gene-based therapy clinical trials.

01 Jan 2025·Advances in Experimental Medicine and Biology

Calcium-Binding Protein 4 Is Fundamental for Retinal Structure and Function

Review

Author: Petersen-Jones, Simon M ; Beckwith-Cohen, Billie

Calcium-binding proteins (CaBPs) are a subfamily of calmodulin-like proteins, that modulate presynaptic calcium-dependent interactions with voltage-gated calcium channels. CaBPs play crucial roles in the development of normal sensorineural structure and function in both the visual and auditory systems. Disruption of CaBPs can result in a range of synaptic disorders of varying severity, which are dependent on the proteins or isoforms that predominate the affected system. In the retina, CaBP4 seems to be the isoform that is most important for the development of structure and function of the photoreceptor to ON bipolar synapse. Absence of CaBP4 results in synaptic ribbon immaturity in the first retinal synapse, disruption of ON-bipolar cell-driven responses, and a structurally thin outer plexiform layer. It has recently been demonstrated that at least some of the functional and anatomic disruption caused by CaBP mutations can be successfully addressed with gene augmentation therapy both in the eye and ear.

01 Nov 2024·Ophthalmic Genetics

A novel homozygous nonsense variant in CABP4 causing stationary cone/rod synaptic dysfunction

Article

Author: Vavvas, Demetrios G. ; Place, Emily ; Hauser, Blake M. ; Huckfeldt, Rachel

INTRODUCTIONVariants in the CABP4 gene cause a phenotype to be included in the spectrum of congenital stationary night blindness, though some reports suggest that the clinical abnormalities are more accurately categorized as a synaptic disease of the cones and rods. We report a novel homozygous nonsense variant in CABP4 in a patient complaining of non-progressive reduced visual acuity and photophobia but not nyctalopia.METHODSComplete ocular examination, fundus photographs, autofluorescence, optical coherence tomography, electroretinography, and targeted sequencing of known inherited retinal disease-associated genes.RESULTSA 25-year-old man monitored for 13 years complains of a lifelong history of stable reduced visual acuity (20/150), impaired color vision (1 of 14 plates), small-amplitude nystagmus, and photophobia without nyctalopia. He is also hyperopic (+7D), and his electroretinography shows significantly reduced rod and cone responses. Targeted genetic analysis revealed a novel homozygous variant in the CABP4 gene at c.181C>T, p. (Gln61*) underlying his clinical presentation.CONCLUSIONSA novel variant in CABP4 is associated with stationary cone and rod dysfunction resulting in decreased acuity, color deficit, and photophobia, but not nyctalopia.

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CABP4

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