功能： disease:Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA) [MIM:267300]. Inheritance is autosomal recessive. Patients with recessive dRTA are severely affected, presenting with either acute illness or growth failure at a young age, and bilateral sensorineural deafness. Other features include low serum K(+) due to renal potassium wasting, and elevated urinary calcium. If untreated, this acidosis may result in dissolution of bone, leading to osteomalacia and rickets. Renal deposition of calcium salts (nephrocalcinosis) and renal stone formation commonly occur.,domain:The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7.,function:Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.,similarity:Belongs to the ATPase alpha/beta chains family.,subcellular location:Endomembrane.,subunit:V-ATPase is an heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein). Forms a complex with SLC9A3R1 and SCL4A7.,tissue specificity:Expressed in the cochlea and endolymphatic sac.,
组织表达： Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:29993276, PubMed:16769747). Expressed in the cochlea and endolymphatic sac (PubMed:9916796).
科研货号： PLA018610
V-ATPase B1 Polyclonal Antibody
Catalog NoPLA018610
Product information
基因名称： ATP6V1B1
蛋白名称： V-type proton ATPase subunit B kidney isoform
功能： disease:Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA) [MIM:267300]. Inheritance is autosomal recessive. Patients with recessive dRTA are severely affected, presenting with either acute illness or growth failure at a young age, and bilateral sensorineural deafness. Other features include low serum K(+) due to renal potassium wasting, and elevated urinary calcium. If untreated, this acidosis may result in dissolution of bone, leading to osteomalacia and rickets. Renal deposition of calcium salts (nephrocalcinosis) and renal stone formation commonly occur.,domain:The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7.,function:Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.,similarity:Belongs to the ATPase alpha/beta chains family.,subcellular location:Endomembrane.,subunit:V-ATPase is an heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein). Forms a complex with SLC9A3R1 and SCL4A7.,tissue specificity:Expressed in the cochlea and endolymphatic sac.,
组织表达： Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:29993276, PubMed:16769747). Expressed in the cochlea and endolymphatic sac (PubMed:9916796).
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