70千道尔顿过氧化物酶体膜蛋白在人类1号染色体短臂2区1带至2区2带以及小鼠3号染色体上的定位。
Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3.
作者信息
Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland N G, Gilbert D J, Jenkins N A, Valle D
机构信息
Department of Pediatrics, Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, Maryland 21205.
出版信息
Genomics. 1993 Feb;15(2):412-4. doi: 10.1006/geno.1993.1076.
The 70-kDa peroxisomal membrane protein (PXMP1) is a member of the ATP-binding cassette transporter family. In humans, mutations in this gene may be responsible for a subset of patients with Zellweger syndrome, a lethal inborn error of peroxisome assembly. The PXMP1 gene was assigned to human chromosome 1p21-p22 by in situ hybridization and its murine homologue (Pxmp-1) to chromosome 3 by interspecific backcross analysis.
70 kDa过氧化物酶体膜蛋白（PXMP1）是ATP结合盒转运蛋白家族的成员。在人类中，该基因的突变可能是导致一小部分患有泽尔韦格综合征（一种致命的过氧化物酶体组装先天性代谢缺陷）患者的病因。通过原位杂交将PXMP1基因定位于人类染色体1p21 - p22，通过种间回交分析将其小鼠同源基因（Pxmp - 1）定位于染色体3。
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