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El gen CLCN4 codifica la prote\u00edna CIC-4, que es un intercambiador de 2Cl-\/H+ que se expresa en compartimentos intracelulares en una amplia variedad de tejidos, pero de forma destacada en el cerebro y el m\u00fasculo esquel\u00e9tico. Se cree que ClC-4 se expresa dentro de las c\u00e9lulas en los endosomas y posiblemente en el ret\u00edculo endopl\u00e1smico, y que participa en la homeostasis i\u00f3nica de los endosomas y en el tr\u00e1fico intracelular. Estudios en ratones han sugerido un papel de CIC-4 en la diferenciaci\u00f3n neuronal: las neuronas del hipocampo de ratones con Clcn4 knockout y las neuronas wild-type sometidas a un knockdown de Clcn4 mediado por ARNhc demuestran una reducci\u00f3n del n\u00famero total de ramas dendr\u00edticas por neurona. Sin embargo, la fisiopatolog\u00eda del trastorno relacionado con el Clcn4 en los seres humanos no se comprende del todo. El espectro de mutaciones incluye variantes de cambio de marco, de sentido err\u00f3neo y de sitio de empalme, as\u00ed como microdeleciones cromos\u00f3micas. Las variantes pat\u00f3genas con sentido err\u00f3neo se agrupan en los dominios helicoidales trans o intermembrana de la prote\u00edna, o en el dominio de la cistationina-\u03b2-sintasa (CBS) que se cree que es importante para el cierre del antiportador. Se ha demostrado que todas las variantes con sentido err\u00f3neo conocidas hasta la fecha que se agrupan en estas regiones tienen un efecto funcional en los estudios electrofisiol\u00f3gicos cuando se expresan heterol\u00f3gicamente en oocitos de Xenopus laevis. Todas las hembras afectadas conocidas hasta la fecha tienen una variante sin sentido en CLCN4: las hembras portadoras heterocigotas en familias con variantes de p\u00e9rdida de funci\u00f3n previstas tienen fenotipos esencialmente normales.<\/p>\n
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_builder_version=\u00bb3.25″ custom_padding=\u00bb|||\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_social_media_follow _builder_version=\u00bb4.5.8″ text_orientation=\u00bbcenter\u00bb custom_margin=\u00bb|||||true\u00bb hover_enabled=\u00bb0″ border_radii=\u00bbon|40px|40px|40px|40px\u00bb locked=\u00bboff\u00bb][et_pb_social_media_follow_network social_network=\u00bbfacebook\u00bb _builder_version=\u00bb4.5.8″ background_color=\u00bbrgba(255,255,255,0.2)\u00bb custom_margin=\u00bb|6px||6px||true\u00bb custom_padding=\u00bb8px|8px|8px|8px|true|true\u00bb hover_enabled=\u00bb0″ follow_button=\u00bboff\u00bb url_new_window=\u00bbon\u00bb url=\u00bbhttps:\/\/www.facebook.com\/groups\/272975780022928\/?ref=share\u00bb]facebook[\/et_pb_social_media_follow_network][et_pb_social_media_follow_network social_network=\u00bblinkedin\u00bb background_color=\u00bbrgba(255,255,255,0.2)\u00bb _builder_version=\u00bb4.5.8″ _module_preset=\u00bbdefault\u00bb follow_button=\u00bboff\u00bb url_new_window=\u00bbon\u00bb url=\u00bbhttps:\/\/uk.linkedin.com\/company\/cure-clcn4?trk=public_profile_experience-item_result-card_image-click\u00bb hover_enabled=\u00bb0″ custom_margin=\u00bb|6px||6px|false|false\u00bb custom_padding=\u00bb8px|8px|8px|8px|false|false\u00bb]linkedin[\/et_pb_social_media_follow_network][\/et_pb_social_media_follow][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"
El gen CLCN4 codifica la prote\u00edna CIC-4, que es un intercambiador de 2Cl-\/H+ que se expresa en compartimentos intracelulares en una amplia variedad de tejidos, pero de forma destacada en el cerebro y el m\u00fasculo esquel\u00e9tico. Se cree que ClC-4 se expresa dentro de las c\u00e9lulas en los endosomas y posiblemente en el ret\u00edculo endopl\u00e1smico, y que participa en la homeostasis i\u00f3nica de los endosomas y en el tr\u00e1fico intracelular.<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-2111","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2111","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/comments?post=2111"}],"version-history":[{"count":6,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2111\/revisions"}],"predecessor-version":[{"id":3112,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2111\/revisions\/3112"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/media?parent=2111"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}