ARL14 Effector Protein (ARL14EP)

By searching for genes in a region of chromosome 11 associated with WAGR syndrome, Gawin et al. (1999) identified and cloned C11ORF46, which they designated clone 141181. Northern blot analysis detected a 3-kb C11ORF46 transcript in most tissues examined. By analysis of a PAC contig, Gawin et al. (1999) mapped the C11ORF46 gene to chromosome 11p14.1-p13.

A number sign is used with this entry because the WAGR syndrome is a contiguous gene syndrome due to deletion, either microscopic or submicroscopic, at chromosome 11p13 in a region containing the WT1) and PAX6 genes. A subphenotype of WAGR including obesity (WAGRO) has been associated with haploinsufficiency for the BDNF gene and is discussed in.