人类阳离子氨基酸转运体基因hCAT-2定位于8p22，但不是赖氨酸尿症蛋白不耐受的致病基因。

Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance.

作者信息

Lauteala T, Horelli-Kuitunen N, Closs E, Savontaus M I, Lukkarinen M, Simell O, Cunningham J, Palotie A, Aula P

机构信息

Department of Medical Genetics, University of Turku, Finland.

出版信息

Hum Genet. 1997 Jul;100(1):80-3. doi: 10.1007/s004390050469.

DOI:10.1007/s004390050469

PMID:9225973

Abstract

Lysinuric protein intolerance (LPI) is a recessively inherited amino acid disorder characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Recently, cDNAs encoding the related proteins hCAT-2A and hCAT-2B have been cloned. These two carrier proteins are most likely to product of the same gene, hCAT-2. Using the hCAT-2B cDNA, we assigned the hCAT-2 gene to chromosome 8p22. Furthermore, by linkage analysis in Finnish LPI families, we ruled out that hCAT-2B is involved in LPI disease.

摘要

赖氨酸尿性蛋白不耐受症（LPI）是一种隐性遗传的氨基酸紊乱疾病，其特征是肠道和肾小管上皮细胞基底外侧膜上阳离子氨基酸的流出存在缺陷。最近，编码相关蛋白hCAT-2A和hCAT-2B的cDNA已被克隆。这两种载体蛋白很可能是同一基因hCAT-2的产物。利用hCAT-2B cDNA，我们将hCAT-2基因定位于8号染色体p22区域。此外，通过对芬兰LPI家族的连锁分析，我们排除了hCAT-2B与LPI疾病有关。