Biology:IQSEC2

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene.[1][2]

Function

The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins (see for example ARF1).[3]

Clinical significance

It is associated with X-Linked mental retardation 1.[3]

References

  1. "Entrez Gene: IQ motif and Sec7 domain 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23096. 
  2. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. February 1998. doi:10.1093/dnares/5.1.31. PMID 9628581. 
  3. 3.0 3.1 "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability". Nat. Genet. 42 (6): 486–8. June 2010. doi:10.1038/ng.588. PMID 20473311. 

Further reading