ATP6V0A4 Membrane Protein Introduction

Introduction of ATP6V0A4

V-type proton ATPase 116 kDa subunit a isoform 4 (ATP6V0A4), encoded by the ATP6V0A4 gene in humans (mapped to chromosome 7q33-q34), is a component of the vacuolar ATPase (V-ATPase). The multisubunit V-ATPase is comprised of a peripheral V1 domain where ATP hydrolysis provides energy for proton movement and an integral membrane V0 domain where proton translocation takes place. ATP6V0A4 is a component of the V0 domain. ATP6V0A4 gene is one of four genes in man and mouse that encode different isoforms of a subunit.

Function of ATP6V0A4 Membrane Protein

V-ATPase dependent acidification is very important to maintain systemic pH, which is essential for many physiological functions, such as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. As a part of V-ATPase, ATP6V0A4 is indispensable for assembly and activity of the vacuolar ATPase and may be associated with normal vectorial acid transport into the urine by the kidney, acting as a part of the proton channel. It has been reported that single-nucleotide polymorphism (SNP) in ATP6V0A4 gene can lead to renal tubular acidosis, and may result in a preserved hearing, suggesting that ATP6V0A4 is possibly involved in the sensory perception of sound. Fig 1 shows the role of ATP6V0A4 in mitochondria-rich cells.

Fig.1 Schematic representation of the role of ATP6V0A4 in mitochondria-rich cells. (Honda, 2017)

Application of ATP6V0A4 Membrane Protein in Literature

1. El Hayek D., et al. Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis. Clin Nephrol. 2014, 81(2): 142-5. PubMed ID: 22854161
   
   

   This article confirms that a novel ATP6V0A4 gene mutation is associated with autosomal recessive distal renal tubular acidosis with normal hearing in the patient.

2. Kose E., et al. Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report. Ren Fail. 2014, 36(5): 808-10. PubMed ID: 24564331
   
   

   This article describes a Turkish girl with primary distal renal tubular acidosis who suffered from early-onset bilateral sensorineural hearing loss caused by homozygote Val2Ala mutation in the ATP6V0A4 gene.

3. Elhayek D., et al. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4, and SCL4A1 genes. BMC Med Genet. 2013, 14: 119. PubMed ID: 24252324
   
   

   This article proposes a new diagnostic strategy to facilitate the genetic testing in North Africans with primary distal renal tubular acidosis and sensorineural hearing loss, by performing molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes in a large Tunisian cohort with distal renal tubular acidosis.

4. Li X., et al. Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis. Int J Pediatr Otorhinolaryngol. 2012, 76(1): 152-4. PubMed ID: 22093743
   
   

   This article suggests that a unique audiometric profile of progressive hearing loss of the patient may provide useful insights when studying the highly variable hearing phenotypes related to the ATP6V0A4 mutations.

5. Escobar L.I., et al. Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. Mol Genet Genomic Med. 2016, 4(3): 303-11. PubMed ID: 27247958
   
   

   This article finds that ATP6V1B1 and ATP6V0A4 genes are involved in autosomal recessive distal renal tubular acidosis of Mexican families. On the other hand, ATP6V0A4 variants are found in one teenager and one adult with SNHL confirming the phenotypic variability, and in three children and one infant without SNHL.

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Reference

1. Honda K, et al. (2017). Molecular architecture underlying fluid absorption by the developing inner ear. Elife. 6. pii: e26851.

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