MAP2K1 mitogen-activated protein kinase kinase 1
Gene info
Synonyms
MEK1, MAPKK1
Previous symbol
PRKMK1
External ID
HGNC: 6840
Entrez Gene: 5604
Ensembl: ENSG00000169032
UCSC: uc010bhq.4
OMIM:
176872
UniProtKB:
Q02750
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Pulmonic stenosis
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
No CHD in null mice
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for MAP2K1: BED file
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Selected References
- Dentici, M. L., Sarkozy, A., Pantaleoni, F., Carta, C., Lepri, F., Ferese, R., Cordeddu, V., Martinelli, S., Briuglia, S., Digilio, M. C., Zampino, G., Tartaglia, M., & Dallapiccola, B. (2009). Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations. European Journal of Human Genetics, 17(6), 733–740. https://doi.org/10.1038/ejhg.2008.256 DOI:10.1038/ejhg.2008.256 PMID:19156172
- Narumi, Y., Aoki, Y., Niihori, T., Neri, G., Cavé, H., Verloes, A., Nava, C., Kavamura, M. I., Okamoto, N., Kurosawa, K., Hennekam, R. C. M., Wilson, L. C., Gillessen-Kaesbach, G., Wieczorek, D., Lapunzina, P., Ohashi, H., Makita, Y., Kondo, I., Tsuchiya, S., … Matsubara, Y. (2007). Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome. American Journal of Medical Genetics Part A, 143A(8), 799–807. https://doi.org/10.1002/ajmg.a.31658 DOI:10.1002/ajmg.a.31658 PMID:17366577
- Rodriguez-Viciana, P., Tetsu, O., Tidyman, W. E., Estep, A. L., Conger, B. A., Cruz, M. S., McCormick, F., & Rauen, K. A. (2006). Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome. Science, 311(5765), 1287–1290. https://doi.org/10.1126/science.1124642 DOI:10.1126/science.1124642 PMID:16439621