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OSTM1 encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway.
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Homozygous splice defect in OSTM1, coexisting with MANEAL mutation was identified in a patient with neurological disorder with brain iron accumulation.
KIF5B (zeige KIF5B ELISA Kits) is essential for Ostm1 intracellular dispersion.
Ostm1 has a primary and autonomous role in neuronal homeostasis
Common gating underlies the slow voltage activation of ClC-7.
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
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.
mutation in the human GL gene leads to severe recessive osteopetros (zeige CSF1 ELISA Kits)is
The human GIPN gene has 6 exons and 5 introns, and encodes a 334-aa protein.
A novel mutation affecting the OSTM1 locus responsible for ARO (zeige CYP19A1 ELISA Kits). In addition to common clinical features of osteopetrosis (zeige CSF1 ELISA Kits), the patient developed a unique neuronal pathology that provided evidence for the role of OSTM1 in normal neuronal cell development.
This study reports on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a malignant infantile osteopetrosis (zeige CSF1 ELISA Kits).
Truncated OSTM1 significantly inhibited the expression of osteoclast marker genes through the down-regulation of the BLIMP1 (zeige PRDM1 ELISA Kits)-NFATc1 (zeige NFATC1 ELISA Kits) axis.
Our in vivo structure-function analysis of ClC-7 reveals that both protein-protein interactions and ion transport must be considered in the pathogenesis of ClC-7-related diseases.
Omi (zeige HTRA2 ELISA Kits) is a recessive mutation in the Ostm1 gene affecting teeth and coat color.
Ostm1 is a bona fide target of miR (zeige MLXIP ELISA Kits)-140, which is significantly decreased during adipogenic differentiation.
Neuropathologic changes similar to neuronal ceroid lipofuscinosis are found in osteoporosis associated transmembrane protein 1 (Ostml)-deficient mice.
mutation induces severe malignant autosomal recessive osteopetrosis (zeige CSF1 ELISA Kits); studies show that Gl protein function is absolutely required for osteoclast and melanocyte maturation and function
both ClC-7 and Ostm1 proteins co-localize in late endosomes and lysosomes of various tissues, as well as in the ruffled border of bone-resorbing osteoclasts
microphthalmia transcription factor (zeige MITF ELISA Kits) regulates Clcn7 and Ostm1 expression in osteoclasts
This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis.
osteopetrosis-associated transmembrane protein 1
, osteopetrosis associated transmembrane protein 1
, GAIP-interacting protein N terminus
, chloride channel 7 beta subunit
, grey-lethal osteopetrosis
, grey lethal osteopetrosis
, GAIP interacting protein N terminus
, osteopetrosis associated transmembrane protein 1-like