SMNDC1 - survival motor neuron domain containing 1 Gene

中文名称：含 存活运动神经元域 1

种属: Homo sapiens

同用名: SMNR; SPF30; TDRD16C

关于 SMNDC1

功能概要

该基因是编码存活运动神经元蛋白的 SMN1 基因的旁系同源基因，其突变是常染色体隐性近端脊髓性肌萎缩症的原因。该基因编码的蛋白质是一种核蛋白，已被确定为剪接体复合物的组成部分。该基因表达差异，在骨骼肌中含量丰富，可能与 SMN1 基因具有相似的细胞功能。[RefSeq 提供，2008 年 7 月]

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]