MAP3K3 Chromosome 17

Mitogen-activated protein kinase kinase kinase 3
1 variant 1 Health Risk

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What This Gene Does
This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitogen-activated protein kinase kinase kinases
Locus Type
gene with protein product
Location
17q23.3
Ensembl
ENSG00000198909
Associated Conditions (3)
Verrucous hemangioma
CEREBRAL CAVERNOUS MALFORMATIONS 5
SOMATIC
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2143631386 Health Risk Pathogenic/Likely pathogenic Verrucous hemangioma, CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC
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