Genomic coordinate 7: 138,706,294
Here I present: “Distal-renal Tubular-acidosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DRTA) 遠端腎小管酸中毒。icd10=N25.8
INTRODUCTION.
Vacuolar-type ATPase (V-ATPase) is a highly conserved evolutionarily ancient enzyme with remarkably diverse functions in eukaryotic organisms. V-ATPases acidify a wide array of intracellular organelles and proton pumps across the plasma membranes of numerous cell types. V-ATPases couple the energy of ATP hydrolysis to proton transport across intracellular and plasma membranes of eukaryotic cells. It is generally seen as the polar opposite of ATP synthase because ATP synthase is a proton channel that uses the energy from a proton gradient to produce ATP. V-ATPase however, is a proton pump that uses the energy from ATP hydrolysis to produce a proton gradient.
Vacuolar-type proton pumps help maintain acid-base homeostasis either within intracellular compartments or at specialized plasma membranes. The pumps are made up of 13 subunits, which form 2 functional domains: a V1 domain where ATP hydrolysis provides energy for proton movement, and a membrane-anchored V0 domain where proton translocation takes place. ATP6V0A4 is 1 of the subunits that form the V0 domain.
There is evidence that autosomal recessive distal-renal tubular-acidosis (DRTA) type-3 with or without sensorineural hearing loss is caused by homozygous mutation in the ATP6V0A4 gene on cytogenetic location 7q34 and genomic coordinates 7:138,706,294-138,798,196. The screenshot of the ATP6V0A4 gene 91,903 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ATP6V0A4 in the 7q34 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:138,500,001 | OTSC2 | Otosclerosis 2 |
| 7:138,500,001 | TRBJ@ | T-cell receptor beta chain joining gene cluster |
| 7:138,500,001 | TRBV@ | T-cell receptor beta chain variable gene cluster |
| 7:138,594,285 | SVOPL | SV2-related protein-like |
| 7:138,706,294 | ATP6V0A4 | ATPase, H+ transporting, V0 subunit A4 |
| 7:138,831,381 | KIAA1549 | KIAA1549 gene |
| 7:139,043,515 | ZC3HAV1 | Zinc finger CCCH domain antiviral protein 1 |
| 7:139,133,778 | TTC26 | Tetratricopeptide repeat domain protein 26 |
| 7:139,231,237 | UBN2 | Ubinuclein 2 |
| 7:139,340,472 | FMC1 | Formation of mitochondrial complex factor 1 |
