MAK Chromosome 6
Male germ cell associated kinase
Upload your DNA to see your personal genotypes for variants in MAK.
What This Gene Does
The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
CILK1, MAK, MOK protein kinase family
Locus Type
gene with protein product
Location
6p24.2
Ensembl
ENSG00000111837
Associated Conditions (9)
Inborn genetic diseases
Retinitis pigmentosa 62
Retinal dystrophy
Retinitis pigmentosa
MAK-related disorder
Familial pancreatic carcinoma
Malignant tumor of esophagus
MAK-related retinopathy
Isolated macular dystrophy
Key Variants
RS139003494
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1394158081
Conflicting classifications of pathogenicity
Retinitis pigmentosa 62, Retinitis pigmentosa 62
Health Risk
RS144848825
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145014649
Conflicting classifications of pathogenicity
Health Risk
RS1459871246
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS147251038
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149006687
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1772880607
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1775529306
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS199594233
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200641218
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS200703968
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
All Variants (106)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760171531 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 62, Retinitis pigmentosa 62 |
| RS762837543 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 62, Retinal dystrophy |
| RS777909571 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 62, Retinitis pigmentosa 62 |
| RS886043417 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 62, Retinitis pigmentosa 62 |
| RS926585713 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 62, Retinitis pigmentosa 62 |
| RS935003657 | Health Risk | Pathogenic/Likely pathogenic | — |