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 …

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 …

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 …

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 …

clcn7 gene mutation is associated with intermediate autosomal recessive osteopetrosis; Autosomal dominant osteopetrosis caused by mutations in the CLCN7 gene is a frequently …

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 …

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 …

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 …

In the following, individuals with autosomal recessive osteopetrosis (ARO) were found to carry biallelic CLCN7 pathogenic variants. Shortly thereafter, heterozygous pathogenic variants …

2024年9月19日 · Clinical resource with information about CLCN7, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Hypopigmentation, organomegaly, and …