Osteopetrosis Associated Transmembrane Protein 1 Proteins (OSTM1)

Human Osteopetrosis Associated Transmembrane Protein 1 (OSTM1) interaction partners

1. Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation.

2. KIF5B (show KIF5B Proteins) is essential for Ostm1 intracellular dispersion.

3. Ostm1 has a primary and autonomous role in neuronal homeostasis

4. Common gating underlies the slow voltage activation of ClC-7 (show CLCN7 Proteins).

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

6. The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit (show POLG Proteins) are required for ClC-7 (show CLCN7 Proteins) Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7 (show CLCN7 Proteins)-dependent trafficking to lysosomes.

7. mutation in the human GL gene leads to severe recessive osteopetros (show CSF1 Proteins)is

8. The human GIPN gene has 6 exons and 5 introns, and encodes a 334-aa protein.

9. A novel mutation affecting the OSTM1 locus responsible for ARO (show CYP19A1 Proteins). In addition to common clinical features of osteopetrosis (show CSF1 Proteins), the patient developed a unique neuronal pathology that provided evidence for the role of OSTM1 in normal neuronal cell development.

10. This study reports on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a malignant infantile osteopetrosis (show CSF1 Proteins).

Mouse (Murine) Osteopetrosis Associated Transmembrane Protein 1 (OSTM1) interaction partners

1. KIF5B (show KIF5B Proteins) is essential for Ostm1 intracellular dispersion.

2. Truncated OSTM1 significantly inhibited the expression of osteoclast marker genes through the down-regulation of the BLIMP1 (show PRDM1 Proteins)-NFATc1 (show NFATC1 Proteins) axis.

3. Our in vivo structure-function analysis of ClC-7 (show CLCN7 Proteins) reveals that both protein-protein interactions and ion transport must be considered in the pathogenesis of ClC-7 (show CLCN7 Proteins)-related diseases.

4. Ostm1 has a primary and autonomous role in neuronal homeostasis

5. Omi (show HTRA2 Proteins) is a recessive mutation in the Ostm1 gene affecting teeth and coat color.

6. Ostm1 is a bona fide target of miR (show MLXIP Proteins)-140, which is significantly decreased during adipogenic differentiation.

7. Neuropathologic changes similar to neuronal ceroid lipofuscinosis (show CLN6 Proteins) are found in osteoporosis associated transmembrane protein 1 (show TMEM1 Proteins) (Ostml)-deficient mice.

8. mutation induces severe malignant autosomal recessive osteopetrosis (show CSF1 Proteins); studies show that Gl protein function is absolutely required for osteoclast and melanocyte maturation and function

9. both ClC-7 (show CLCN7 Proteins) and Ostm1 proteins co-localize in late endosomes and lysosomes of various tissues, as well as in the ruffled border of bone-resorbing osteoclasts

10. microphthalmia transcription factor (show MITF Proteins) regulates Clcn7 and Ostm1 expression in osteoclasts