IQSEC2 gene

IQ motif and Sec7 domain 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

From UniProt:

Mental retardation, X-linked 1 (MRX1): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. [MIM:309530]

Cytogenetic Location: Xp11.22, which is the short (p) arm of the X chromosome at position 11.22

Molecular Location: base pairs 53,225,784 to 53,321,350 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.22, which is the short (p) arm of the X chromosome at position 11.22
  • BRAG1
  • MRX1
  • MRX18
  • MRX78