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Nature Genetics, ISSN 1061-4036, 2008, Volume 40, Issue 1, pp. 32 - 34
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa... 
V-ATPASE | COMPLEX-FORMATION | DEFECTS | PATHWAY | GENETICS & HEREDITY | DEFICIENCY REVEALS | CONGENITAL DISORDER | Cutis Laxa - metabolism | Golgi Apparatus | Proton-Translocating ATPases - genetics | Humans | Female | Infant | Male | Cutis Laxa - genetics | Glycosylation | Proteins | Genetics | Skin diseases | Biochemistry | Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1016 - 1021
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 216 - 227
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2015, Volume 97, Issue 3, pp. 483 - 492
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2014, Volume 802, pp. 161 - 184
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 78, Issue 6, pp. 1075 - 1080
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 352 - 361
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 2018, Volume 293, Issue 8, pp. 2787 - 2800
The a subunit is the largest of 15 different subunits that make up the vacuolar H+-ATPase (V-ATPase) complex, where it functions in proton translocation. In... 
TOPOLOGY | TRANSPORT | ISOFORMS | N-LINKED GLYCOSYLATION | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPLEXES | ACIDIFICATION | OSTEOPETROSIS | VACUOLAR H+-ATPASE | Golgi Apparatus - enzymology | Vacuolar Proton-Translocating ATPases - genetics | Kidney - pathology | Humans | Kidney - enzymology | Protein Multimerization | Acidosis, Renal Tubular - genetics | Endoplasmic Reticulum - metabolism | Golgi Apparatus - pathology | Mutation, Missense | Recombinant Fusion Proteins - metabolism | Vacuolar Proton-Translocating ATPases - metabolism | Proton-Translocating ATPases - metabolism | Endoplasmic Reticulum - pathology | Kidney - metabolism | Proton-Translocating ATPases - genetics | Proteolysis | Acidosis, Renal Tubular - pathology | Cell Membrane - pathology | HEK293 Cells | Cell Membrane - metabolism | Protein Interaction Domains and Motifs | Cutis Laxa - metabolism | Endoplasmic Reticulum - enzymology | Enzyme Stability | Models, Molecular | Cutis Laxa - genetics | Glycosylation | Recombinant Fusion Proteins - chemistry | Acidosis, Renal Tubular - metabolism | Protein Transport | Proton-Translocating ATPases - chemistry | Cell Membrane - enzymology | Vacuolar Proton-Translocating ATPases - chemistry | Golgi Apparatus - metabolism | Protein Processing, Post-Translational | Proteasome Endopeptidase Complex - metabolism | Cutis Laxa - pathology | Amino Acid Substitution | Molecular Bases of Disease | 3D modeling | proton pump | ATPase | ER-associated degradation | membrane protein | trafficking | N-glycosylation | protein degradation
Journal Article
Human Genetics, ISSN 0340-6717, 2012, Volume 131, Issue 11, pp. 1761 - 1773
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were... 
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | VACUOLAR (H+)-ATPASES | CELLS | GENE | DISEASE | GENETICS & HEREDITY | MISSENSE MUTATION | H+-ATPASE | PROTEIN GLYCOSYLATION | BRAIN DYSGENESIS | ALTERED GLYCOSYLATION | DEBRE TYPE | Skin - metabolism | Golgi Apparatus - drug effects | Humans | Transforming Growth Factor beta1 - metabolism | Child, Preschool | Brefeldin A - pharmacology | Infant | Male | Protein Transport - drug effects | Glycosylation - drug effects | Young Adult | Proton-Translocating ATPases - genetics | Adult | Protein Synthesis Inhibitors - pharmacology | Real-Time Polymerase Chain Reaction | Skin - pathology | Fibroblasts - metabolism | Cutis Laxa - metabolism | Cutis Laxa - congenital | Enzyme-Linked Immunosorbent Assay | RNA, Messenger - genetics | Cells, Cultured | Cutis Laxa - genetics | Fibroblasts - pathology | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Fibroblasts - drug effects | Adolescent | Fluorescent Antibody Technique | Golgi Apparatus - metabolism | Cutis Laxa - pathology | Skin - drug effects | Apoptosis | Pregnant women | Genes | Skin | Children | Universities and colleges | Transforming growth factors | Health aspects | Cells | Adenosine triphosphatase | Bone morphogenetic proteins | Chemical properties | Indexing in process
Journal Article