Osteopetrosis-associated transmembrane protein 1 (UniProt: Q86WC4; also known as Chloride channel 7 beta subunit) is encoded by the OSTM1 (also known as GL) gene (Gene ID: 28962) in human. Osteopetrosis-associated transmembrane protein 1 is a single-
Osteopetrosis-associated transmembrane protein 1 (UniProt: Q86WC4; also known as Chloride channel 7 beta subunit) is encoded by the OSTM1 (also known as GL) gene (Gene ID: 28962) in human. Osteopetrosis-associated transmembrane protein 1 is a single-pass type I membrane protein that is required for osteoclast and melanocyte maturation and function. It is synthesized with a signal peptide of 31 amino acids, which is cleaved to produce the mature protein. Loss of OSTM1 leads to the most severe form of osteoporosis in mice and human. Although its role in bone chemistry is well established, several studies have shown its expression in neurons, microglia, and astrocytes. OSTM1-deficiecy in the central nervous system leads to gliosis with increased astrocyte cell population and microglia activation along with retinal degeneration at 2 to 3 weeks of age in mice. (Ref.: Ref.: Heraud, C., et al. 2014. J. Biol. Chem. 289(20); 13912-25).
Osteopetrosis-associated transmembrane protein 1 (UniProt: Q86WC4; also known as Chloride channel 7 beta subunit) is encoded by the OSTM1 (also known as GL) gene (Gene ID: 28962) in human. Osteopetrosis-associated transmembrane protein 1 is a single-
H/ACA ribonucleoprotein complex subunit 4 (UniProt: O60832; also known as CBF5 homolog, Dyskerin, Nopp140-associated protein of 57 kDa, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1) is encoded by the DKC1 (also kn
Homeobox protein Nkx-6.1 (UniProt: P78426; also known as Homeobox protein NK-6 homolog A) is encoded by the NKX6-1 (also known as NKX6A) gene (gene ID: 4825) in human. Nkx-6.1 is a transcription factor that binds to specific A/T-rich DNA sequences in
Phosphatidylinositol-binding clathrin assembly protein (UniProt: Q13492; also known as PICALM, Clathrin assembly lymphoid myeloid leukemia protein) is encoded by the PICALM (also known as CALM) gene (Gene ID: 8301) in human. PICALM is ubiquitously ex
Lysyl oxidase homolog 2 (UniProt: Q9Y4K0; also known as EC: 1.4.3.13, Lysyl oxidase-like protein 2, Lysyl oxidase-related protein 2, Lysyl oxidase-related protein WS9-1, LOXL2) is encoded by the LOXL2 gene (Gene ID: 4017) in human. LOXL2 localizes to
Melatonin receptor type 1B (UniProt: P49286; also known as Mel-1B-R, Mel1b receptor) is encoded by the MTNR1B gene (Gene ID: 4544) in human. Mel-1B-R is a member of the G-protein coupled 1 family that is predominantly expressed in retina and to lesse
Programmed cell death 6-interacting protein (UniProt: Q8WUM4; also known as PDCD6-interacting protein, ALG-2-interacting protein 1, ALG-2-interacting protein X, Hp95) is encoded by the PDCD6IP (also known as AIP1, ALIX, KIAA1375) gene (gene ID: 10015
Dysbindin (UniProt: Q96EV8; also known as Biogenesis of lysosome-related organelles complex 1 subunit 8, BLOC-1 subunit 8, Dysbindin-1, Dystrobrevin-binding protein 1, Hermansky-Pudlak syndrome 7 protein, HPS7 protein) is encoded by the DTNBP1 (also
Charged multivesicular body protein 1b (UniProt: Q7LBR1; CHMP1.5, Chromatin-modifying protein 1b, CHMP1b, Vacuolar protein sorting-associated protein 46-2, Vps46-2, hVps46-2) is encoded by the CHMP1B (also known as C18orf2) gene (Gene ID: 57132) in h