CLCC1 ist ein Gen, das durch das Symbol CLCC1 kodiert wird. Andere Namen sind: Chloride channel CLIC-like protein 1; Mid-1-related chloride channel protein 1; KIAA0761; MCLC. CLCC1 hat eine Masse von 62.02kDa, eine Aminosäurelänge von 551, und ist an Retinitis pigmentosa beteiligt.
Wir bieten 6 antikörper gegen CLCC1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human und Maus.
Gen- und Proteininformationen
UniProt Zusammenfassung
Seems to act as a chloride ion channel (PubMed:30157172). Plays a role in retina development (PubMed:30157172).
Gewebespezifität
Expressed in the retina of the eye, with extensive expression in the lamina cribrosa, optic nerve, ganglion cell layer, inner nuclear layer, outer nuclear layer and retinal pigment epithelium.
Rolle bei Krankheiten
Retinitis pigmentosa: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Sequenzähnlichkeiten
Belongs to the chloride channel MCLC family.
Zellort
Endoplasmic reticulum membrane. Golgi apparatus membrane. Nucleus membrane.
Within the endoplasmic reticulum (ER), localizes to the mitochondria-associated ER membrane, a zone of contact between the ER and mitochondrial membranes.
