MAST4 Chromosome 5
Microtubule associated serine/threonine kinase family member 4
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What This Gene Does
This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"PDZ domain containing|Microtubule associated serine/threonine kinase family"
Locus Type
gene with protein product
Location
5q12.3
Ensembl
ENSG00000069020
Associated Conditions (2)
Infantile spasms
Moyamoya angiopathy
Key Variants
RS149652400
Conflicting classifications of pathogenicity
Health Risk
RS2532194146
Likely pathogenic
Infantile spasms, Infantile spasms
Health Risk
RS564196683
Likely pathogenic
Infantile spasms, Infantile spasms
Health Risk
RS77194622
Likely pathogenic
Moyamoya angiopathy, Moyamoya angiopathy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149652400 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2532194146 | Health Risk | Likely pathogenic | Infantile spasms, Infantile spasms |
| RS564196683 | Health Risk | Likely pathogenic | Infantile spasms, Infantile spasms |
| RS77194622 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |