其他名称: SLC9A6; KIAA0267; NHE6; Sodium/hydrogen exchanger 6; Na(+)/H(+) exchanger 6; NHE-6; Solute carrier family 9 member 6
实测条带: 75kD
信号通路: Cardiac muscle contraction;
功能: caution:Was initially identified as a mitochondrial inner membrane protein (PubMed:9507001), but was later shown to be localized in early and recycling endosomes and not mitochondria (PubMed:11940519).,disease:Defects in SLC9A6 are the cause of mental retardation syndromic X-linked Christianson type (MRXSC) [MIM:300243]; also known as MRXS-Christianson or X-linked Angelman-like syndrome. The phenotype is characterized by profound mental retardation, epilepsy, ataxia, and microcephaly, and showed phenotypic overlap with Angelman syndrome.,function:Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.,similarity:Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.,subcellular location:Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane.,tissue specificity:Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Endosome membrane ; Multi-pass membrane protein . Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane.; [Isoform 2]: Recycling endosome membrane ; Multi-pass membrane protein .
组织表达: Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.
其他名称: SLC9A6; KIAA0267; NHE6; Sodium/hydrogen exchanger 6; Na(+)/H(+) exchanger 6; NHE-6; Solute carrier family 9 member 6
实测条带: 75kD
信号通路: Cardiac muscle contraction;
功能: caution:Was initially identified as a mitochondrial inner membrane protein (PubMed:9507001), but was later shown to be localized in early and recycling endosomes and not mitochondria (PubMed:11940519).,disease:Defects in SLC9A6 are the cause of mental retardation syndromic X-linked Christianson type (MRXSC) [MIM:300243]; also known as MRXS-Christianson or X-linked Angelman-like syndrome. The phenotype is characterized by profound mental retardation, epilepsy, ataxia, and microcephaly, and showed phenotypic overlap with Angelman syndrome.,function:Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis.,similarity:Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.,subcellular location:Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane.,tissue specificity:Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Endosome membrane ; Multi-pass membrane protein . Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane.; [Isoform 2]: Recycling endosome membrane ; Multi-pass membrane protein .
组织表达: Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.