C27F2.4

Caenorhabditis elegans

Predicted to enable rRNA (guanine) methyltransferase activity. Predicted to be involved in rRNA (guanine-N7)-methylation. Predicted to be located in nucleolus. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor).

drr-2

Caenorhabditis elegans

Predicted to enable RNA binding activity. Part of eukaryotic 48S preinitiation complex. Expressed in several structures, including coelomocyte; excretory canal; neurons; ventral nerve cord; and vulva. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human EIF4H (eukaryotic translation initiation factor 4H).

nsun-1

Caenorhabditis elegans

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in several processes, including negative regulation of cellular response to heat; negative regulation of locomotion involved in locomotory behavior; and positive regulation of reproductive process. Predicted to be located in nucleolus. Expressed widely. Used to study Williams-Beuren syndrome. Is an ortholog of human NOP2 (NOP2 nucleolar protein).

W09G3.7

Caenorhabditis elegans

Predicted to enable guanyl-nucleotide exchange factor activity and rRNA binding activity. Predicted to be involved in positive regulation of mitochondrial translation. Predicted to be located in mitochondrial inner membrane. Expressed in amphid neurons; hypodermis; and intestine. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human RCC1L (RCC1 like).

SPDYE1

Homo sapiens

This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]

nsun-5

Caenorhabditis elegans

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in several processes, including negative regulation of cellular response to heat; negative regulation of locomotion involved in locomotory behavior; and positive regulation of rRNA processing. Predicted to be located in nucleolus. Used to study Williams-Beuren syndrome. Is an ortholog of human NSUN5 (NOP2/Sun RNA methyltransferase 5).

pn

Drosophila melanogaster

prune (pn) encodes a phosphoesterase that localizes to the mitochondrial matrix. It hydrolyzes cAMP and negatively regulates mitochondrial cAMP signaling. It is involved in mtDNA maintenance and eye pigment biosynthesis.

Usb1

Homo sapiens

This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

Fzd9

Homo sapiens

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, and kidney. [provided by RefSeq, Jul 2008]

Abhd11

Homo sapiens

This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]