NHS Like Protein 1 (NHSL1)

NHSL1, Belongs to the NHS family.Widely expressed. Expressed in adult and fetal brain, fetal eyes, adult lens, kidney, liver and intestine.

The disease intervals for Nance-Horan syndrome (NHS) and X linked congenital cataract (CXN) overlap on Xp22. A novel gene NHS, with no known function, was identified as causative for NHS. Protein truncating mutations were detected in all three NHS pedigrees, but no mutation was identified in a CXN family, raising the possibility that NHS and CXN may not be allelic. The NHS gene forms a new gene family with a closely related novel gene NHS-Like1 (NHSL1). NHS and NHSL1 lie in paralogous duplicated chromosomal intervals on Xp22 and 6q24, and NHSL1 is more broadly expressed than NHS in human fetal tissues.