Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.7.11.24 (
mitogen-activated protein kinase
)
95,810
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The advent of high-throughput sequencing technologies has led to an exponential increase in the identification of novel disease-causing genes in highly heterogeneous diseases. A novel frameshift mutation in
CNKSR1
gene was detected by Next-Generation Sequencing (NGS) in an Iranian family with syndromic autosomal recessive intellectual disability (ARID).
CNKSR1
encodes a connector enhancer of kinase suppressor of Ras 1, which acts as a scaffold component for receptor tyrosine kinase in
mitogen-activated protein kinase
(
MAPK
) cascades.
CNKSR1
interacts with proteins which have already been shown to be associated with intellectual disability (ID) in the
MAPK
signaling pathway and promotes cell migration through RhoA-mediated
c-Jun N-terminal kinase
(JNK) activation. Lack of
CNKSR1
transcripts and protein was observed in lymphoblastoid cells derived from affected patients using qRT-PCR and western blot analysis, respectively. Furthermore, RNAi-mediated knockdown of cnk, the
CNKSR1
orthologue in Drosophila melanogaster brain, led to defects in eye and mushroom body (MB) structures. In conclusion, our findings support the possible role of
CNKSR1
in brain development which can lead to cognitive impairment.
...
PMID:CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. 3045 Jul 1
