CLCC1 est un gène codé par le symbole CLCC1. D'autres noms incluent: Chloride channel CLIC-like protein 1; Mid-1-related chloride channel protein 1; KIAA0761; MCLC. CLCC1 a une masse de 62.02kDa, une longueur d'acide aminé de 551, et est impliqué dans Retinitis pigmentosa.
Nous proposons 6 des anticorps contre CLCC1, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain et Souris.
Informations sur les Gènes et les Protéines
Résumé UniProt
Seems to act as a chloride ion channel (PubMed:30157172). Plays a role in retina development (PubMed:30157172).
Spécificité tissulaire
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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the chloride channel MCLC family.
Localisation cellulaire
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.
