功能： caution:The N-terminus peptide may increase IL1B secretion by peripheral blood monocytes; however as this region is probably in the cytosol, the in vivo relevance of this observation needs to be confirmed.,disease:Defects in ATP6V0A2 are a cause of wrinkly skin syndrome; (WSS) [MIM:278250]. WSS is rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.,disease:Defects in ATP6V0A2 are the cause of cutis laxa type II (ARCL type II) [MIM:219200]. ARCL type II is an autosomal recessive disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, this disorder belongs to the family of congenital disorders of glycosylation (CDG) and is characterized by the abnormal glycosylation of serum proteins.,function:Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the V-ATPase 116 kDa subunit family.,subcellular location:In kidney proximal tubules, also detected in subapical vesicles.,subunit:The V-ATPase is an heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. Directly interacts with PSCD2 through its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner. Disruption of this interaction results in the inhibition of endocytosis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane; Multi-pass membrane protein. Endosome membrane. In kidney proximal tubules, also detected in subapical vesicles. .
功能： caution:The N-terminus peptide may increase IL1B secretion by peripheral blood monocytes; however as this region is probably in the cytosol, the in vivo relevance of this observation needs to be confirmed.,disease:Defects in ATP6V0A2 are a cause of wrinkly skin syndrome; (WSS) [MIM:278250]. WSS is rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.,disease:Defects in ATP6V0A2 are the cause of cutis laxa type II (ARCL type II) [MIM:219200]. ARCL type II is an autosomal recessive disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, this disorder belongs to the family of congenital disorders of glycosylation (CDG) and is characterized by the abnormal glycosylation of serum proteins.,function:Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the V-ATPase 116 kDa subunit family.,subcellular location:In kidney proximal tubules, also detected in subapical vesicles.,subunit:The V-ATPase is an heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. Directly interacts with PSCD2 through its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner. Disruption of this interaction results in the inhibition of endocytosis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane; Multi-pass membrane protein. Endosome membrane. In kidney proximal tubules, also detected in subapical vesicles. .
在线咨询
湘公网安备