mitogen-activated protein kinase kinase kinase 20
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Pro-apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2 (PubMed:10924358, PubMed:11836244, PubMed:15342622, PubMed:21224381). Involved in limb development (PubMed:26755636).
Isoform 1: Phosphorylates histone H3 at 'Ser-28' (PubMed:15684425). May have role in neoplastic cell transformation and cancer development (PubMed:15172994). Causes cell shrinkage and disruption of actin stress fibers (PubMed:11042189).
From NCBI Gene:
- Split-foot malformation with mesoaxial polydactyly
- MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
Split-foot malformation with mesoaxial polydactyly (SFMMP): An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. [MIM:616890]
Myopathy, centronuclear, 6, with fiber-type disproportion (CNM6): A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. [MIM:617760]