IQSEC2
Description
The IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) is a protein-coding gene located on chromosome X.
IQSEC2, or IQ motif and Sec7 domain 2, is a protein encoded by the IQSEC2 gene in humans. It functions as a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins, which are involved in various cellular processes like vesicle trafficking and signal transduction. Mutations in the IQSEC2 gene have been linked to X-Linked mental retardation 1.
IQSEC2 acts as a guanine nucleotide exchange factor (GEF) for the ADP-ribosylation factor (ARF) family of GTP-binding proteins.
IQSEC2 is also known as BRAG1, IQ-ArfGEF, MRX1, MRX18, MRX78, XLID1.
Associated Diseases
- Microduplication Xp11.22p11.23 syndrome
- Mental retardation, X-linked 1
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- Smith-Magenis syndrome
