CLCC1 è un gene codificato dal simbolo CLCC1. Altri nomi includono: Chloride channel CLIC-like protein 1; Mid-1-related chloride channel protein 1; KIAA0761; MCLC. CLCC1 ha una massa di 62.02kDa, una lunghezza di amminoacidi di 551, ed è implicato in Retinitis pigmentosa.
Offriamo 6 anticorpi contro CLCC1, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano e Topo.
Informazioni su geni e proteine
Riepilogo UniProt
Seems to act as a chloride ion channel (PubMed:30157172). Plays a role in retina development (PubMed:30157172).
Specificità del tessuto
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the chloride channel MCLC family.
Posizione cellulare
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.
