Ma. Pook et al., LOCALIZATION OF THE TAMM-HORSFALL GLYCOPROTEIN (UROMODULIN) GENE TO CHROMOSOME 16P12.3-16P13.11, Annals of Human Genetics, 57, 1993, pp. 285-290
Mapping studies using a panel of 22 rodent-human somatic cell hybrids
have helped to localize the Tamm-Horsfall glycoprotein (uromodulin) ge
ne (UMOD), which has previously been reported to map to 16p13.11, to t
he region 16p12.3-qter. The combined results indicate that U;MOD is lo
cated distal to D16S295 and proximal to D16S287 and in the region 16p1
2.3-16p13.11. Uromodulin is known to affect the formation of calcium-c
ontaining kidney stones, and this localization of UMOD will help in st
udies of families with autosomal forms of nephrolithiasis.