OSTM1 Antibody

1. Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation. PMID: 28612835
2. KIF5B is essential for Ostm1 intracellular dispersion. PMID: 26598607
3. Ostm1 has a primary and autonomous role in neuronal homeostasis PMID: 24719316
4. Common gating underlies the slow voltage activation of ClC-7. PMID: 23983121
5. we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosi PMID: 23685543
6. The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes. PMID: 21527911
7. mutation in the human GL gene leads to severe recessive osteopetrosis PMID: 12627228
8. The human GIPN gene has 6 exons and 5 introns, and encodes a 334-aa protein. PMID: 12826607
9. A novel mutation affecting the OSTM1 locus responsible for ARO. In addition to common clinical features of osteopetrosis, the patient developed a unique neuronal pathology that provided evidence for the role of OSTM1 in normal neuronal cell development. PMID: 17922613
10. This study reports on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a malignant infantile osteopetrosis. PMID: 17985267
11. mutations in OSTM1 such as the C-terminal deletion mutant studied herein provoke dysregulation of the canonical Wnt/beta-catenin signaling pathway, providing a molecular basis for severe autosomal recessive osteopetrosis PMID: 18296023

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HGNC: 21652

OMIM: 259720

KEGG: hsa:28962

STRING: 9606.ENSP00000193322

UniGene: Hs.226780