Full name: NHS actin remodeling regulator

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CTRCT40; CXN; SCML1

Summary: This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Expression: Broad expression in endometrium (RPKM 2.8), kidney (RPKM 2.8) and 22 other tissues

Gene size: 360795bp

Exon count: 12