FZD9 [SEP] chromosome
FZD9
Frizzled-9 is a protein that in humans is encoded by the "FZD9" gene. FZD9 has also been designated as CD349 (cluster of differentiation 349).
Function.
Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle
. This protein has been found to localize to the cytosol and mitochondria of cells. Though its exact biological function has yet to be elucidated, the centromeric location of DNAJC30 on the chromosome has led Merla et al. to postulate that it may contribute to functions such as subtle defects in cognition, transient hypercalcemia, and gastrointestinal problems experienced by Williams Beuren syndrome patients. 
Clinical Significance.
This gene is one of several contiguous genes located at 7q11.23 deleted in Williams Beuren syndrome, the others including: elastin, FKBP6, FZD9