MARK3 Chromosome 14
Microtubule affinity regulating kinase 3
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What This Gene Does
The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Microtubule affinity regulating kinases
Locus Type
gene with protein product
Location
14q32.32-q32.33
Ensembl
ENSG00000075413
Associated Conditions (1)
Visual impairment and progressive phthisis bulbi
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376395495 | Health Risk | Pathogenic | Visual impairment and progressive phthisis bulbi, Visual impairment and progressive phthisis bulbi |