Creative biogene
SHARE THIS
facebook twitterlinkedingoogle plusStumbleUpon blog


  Order Info:   order info
Products
CBpromise

24x7 CUSTOMER SERVICE

CONTACT US TO ORDER

;

c16orf57

Bookmark and Share
Official Full Name
chromosome 16 open reading frame 57
Background
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.
Synonyms
C16ORF57; chromosome 16 open reading frame 57; UPF0406 protein C16orf57; FLJ13154; HVSL motif containing 1; HVSL1; poikiloderma with neutropenia; PN

CONTACT CREATIVE BIOGENE

45-1 Ramsey Road, Shirley, NY 11967, USA
Tel: 1-631-626-9181
Fax: 1-631-614-7828
Email: info@creative-biogene.com

Europe
Tel: 44-207-097-1828

Terms & Conditions | Privacy Policy | Sitemap | FAQ | © 2010-2017 Creative Biogene. All Rights Reserved.
-->