常染色体显性遗传性二水焦磷酸钙沉积病由跨膜蛋白ANKH的突变引起。
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
作者信息
Williams Charlene J, Zhang Yun, Timms Andrew, Bonavita Gina, Caeiro Francisco, Broxholme John, Cuthbertson Jonathan, Jones Yvonne, Marchegiani Raul, Reginato Antonio, Russell R Graham G, Wordsworth B Paul, Carr Andrew J, Brown Matthew A
机构信息
Thomas Jefferson University, Philadelphia, PA, USA.
出版信息
Am J Hum Genet. 2002 Oct;71(4):985-91. doi: 10.1086/343053. Epub 2002 Sep 17.
Abstract
Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5p15. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.
摘要
家族性常染色体显性遗传的二水焦磷酸钙（CPPD）软骨钙质沉着症先前已被定位到5号染色体的p15区域。我们在一个患有此病的家族中发现ANKH基因的一个突变与该疾病共分离。ANKH编码一种假定的跨膜无机焦磷酸（PPi）转运通道。我们推测ANKH功能丧失导致细胞外PPi水平升高，易引发CPPD晶体沉积。
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