ATP6V0A2

(redirected from infantile malignant osteopetrosis)

ATP6V0A2

A gene on chromosome 12q24.31 that encodes a subunit of H+-ATPase (also known as V-ATPase, vacuolar ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles, which is required for an array of molecular processes, including protein sorting, zymogen activation, receptor-mediated endocytosis and synaptic vesicle proton gradient generation.

Molecular pathology
ATP6V0A2 mutations cause cutis laxa type II and wrinkly skin syndrome.
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Various statements in this release concerning Rocket's future expectations, plans and prospects, including without limitation, Rocket's expectations regarding the safety, effectiveness and timing of product candidates that Rocket may develop, to treat Fanconi Anemia (FA), Leukocyte Adhesion Deficiency-I (LAD-I), Pyruvate Kinase Deficiency (PKD), Infantile Malignant Osteopetrosis (IMO) and Danon disease, and the safety, effectiveness and timing of related pre-clinical studies and clinical trials, may constitute forward-looking statements for the purposes of the safe harbor provisions under the Private Securities Litigation Reform Act of 1995 and other federal securities laws and are subject to substantial risks, uncertainties and assumptions.
Rocket's pre-clinical pipeline programmes for bone marrow-derived disorders are for Pyruvate Kinase Deficiency, Leukocyte Adhesion Deficiency-I (LAD-I) and Infantile Malignant Osteopetrosis.
Infantile malignant osteopetrosis (IMO) is a rare congenital disease that is characterized by an impaired function or differentiation of osteoclasts.
Infantile malignant osteopetrosis. J Pediatr 2013;163:1230.
Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia.
?ervenka et al., "Successful bone-marrow transplantation for infantile malignant osteopetrosis," The New England Journal of Medicine, vol.
In this issue, Phadke and colleagues (11) have studied the locus heterogeneity and mutational spectra of eight patients with autosomal recessive infantile malignant osteopetrosis; six patients had mutations in TCIRG1 and two patients harboured mutations in CLCN7.
Rocket's pre-clinical pipeline programs for bone marrow-derived disorders are for Pyruvate Kinase Deficiency (PKD), Leukocyte Adhesion Deficiency-I (LAD-I) and Infantile Malignant Osteopetrosis (IMO).
Rocket's additional pipeline programs for bone marrow-derived disorders are for Pyruvate Kinase Deficiency, Leukocyte Adhesion Deficiency-I (LAD-I) and Infantile Malignant Osteopetrosis. Rocket is also developing an AAV-based gene therapy program for a devastating, pediatric heart failure indication, Danon disease.
Infantile malignant osteopetrosis (arOP; ARO; OMIM 259700) is an autosomal recessive disease manifesting with anaemia, thrombocytopenia, hepatosplenomegaly, visual impairment due to optic atrophy and deafness.
Infantile Malignant Osteopetrosis is a severe form of osteopetrosis most commonly caused by a genetic mutation of the TCIRG1 gene which leads to ineffective osteoclast function.

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