2024年12月24日 · CLCN7 (Chloride Voltage-Gated Channel 7) is a Protein Coding gene. Diseases associated with CLCN7 include Osteopetrosis, Autosomal Dominant 2 and Hypopigmentation, Organomegaly, And Delayed Myelination And Development. Among its related pathways are Activation of cAMP-Dependent PKA and Ion channel transport.

Chloride channel 7 alpha subunit also known as H + /Cl − exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene. [5] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor .

2007年2月12日 · CLCN7-related osteopetrosis is caused by osteoclast dysfunction. The osteoclast is a highly specialized cell with the unique ability to resorb large amounts of mineralized bone tissue.

The CLCN7 gene provides instructions for making a chloride channel called ClC-7. These channels are abundant in cells throughout the body. They are particularly important for the normal function of osteoclasts, which are specialized cells that break down bone tissue.

clcn7 gene mutation is associated with intermediate autosomal recessive osteopetrosis; Autosomal dominant osteopetrosis caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure.

该基因编码氯离子通道 7。 该基因的缺陷是常染色体隐性 4 型骨硬化症 (OPTB4) (也称为婴儿恶性骨硬化症 2 型) 以及常染色体显性骨硬化症 2 型 (OPTA2) (也称为常染色体显性遗传) 的原因 Albers-Schonberg 病或 Marble 病常染色体显性。 骨硬化症是一种罕见的遗传病，其特征是由于未成熟骨的再吸收缺陷导致骨密度异常。 OPTA2 是最常见的骨硬化症，发生在青春期或成年期。 [RefSeq 提供，2008 年 7 月] The product of this gene belongs to the CLC Chloride Channel …

2024年8月30日 · Coimmunoprecipitations showed that CLCN7 and OSTM1 form a molecular complex and suggested that OSTM1 is a beta subunit of CLCN7. CLCN7 is required for OSTM1 to reach lysosomes, where the highly glycosylated OSTM1 luminal domain is cleaved.

2020年11月15日 · Autosomal dominant osteopetrosis type II (ADO II), characterized by increased bone mass and density, is caused by mutations in the chloride channel 7 (CLCN7) gene. In this study, a novel missense variant in CLCN7 (c.1678A > G; p.Met560Val) was identified in three symptomatic subjects and one carrier of a Chinese family with ADO II.

In the following, individuals with autosomal recessive osteopetrosis (ARO) were found to carry biallelic CLCN7 pathogenic variants. Shortly thereafter, heterozygous pathogenic variants were identified as the exclusive cause of autosomal dominant osteopetrosis type 2 (ADO2).

2024年9月19日 · Clinical resource with information about CLCN7, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Hypopigmentation, organomegaly, and delayed myelination and development, and available tests.