KATNB1 Chromosome 16
Katanin regulatory subunit B1
Upload your DNA to see your personal genotypes for variants in KATNB1.
What This Gene Does
Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
16q21
Ensembl
ENSG00000140854
Associated Conditions (5)
Inborn genetic diseases
Lissencephaly 6 with microcephaly
KATNB1-related disorder
Malignant tumor of esophagus
Familial cancer of breast
Key Variants
RS139636269
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142649985
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142661420
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145389285
Conflicting classifications of pathogenicity
Inborn genetic diseases, Lissencephaly 6 with microcephaly, Inborn genetic diseases
Health Risk
RS146443074
Conflicting classifications of pathogenicity
Health Risk
RS150806682
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS191441658
Conflicting classifications of pathogenicity
Health Risk
RS368082767
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372112294
Conflicting classifications of pathogenicity
KATNB1-related disorder, KATNB1-related disorder
Health Risk
RS373854173
Conflicting classifications of pathogenicity
Lissencephaly 6 with microcephaly, Malignant tumor of esophagus, Lissencephaly 6 with microcephaly
Health Risk
RS572963582
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782590255
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139636269 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142649985 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142661420 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145389285 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Lissencephaly 6 with microcephaly, Inborn genetic diseases |
| RS146443074 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150806682 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS191441658 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368082767 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372112294 | Health Risk | Conflicting classifications of pathogenicity | KATNB1-related disorder, KATNB1-related disorder |
| RS373854173 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 6 with microcephaly, Malignant tumor of esophagus, Lissencephaly 6 with microcephaly |
| RS572963582 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782590255 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782659039 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2506910748 | Health Risk | Likely pathogenic | KATNB1-related disorder, KATNB1-related disorder |
| RS376558334 | Health Risk | Likely pathogenic | Lissencephaly 6 with microcephaly, KATNB1-related disorder, Familial cancer of breast |
| RS2148795145 | Health Risk | Pathogenic | — |
| RS2506891667 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2506891792 | Health Risk | Pathogenic | — |
| RS730880257 | Health Risk | Pathogenic | Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |
| RS730880258 | Health Risk | Pathogenic | Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |
| RS730880259 | Health Risk | Pathogenic | Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |
| RS879255517 | Health Risk | Pathogenic | Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |
| RS879255518 | Health Risk | Pathogenic | Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |
| RS879255519 | Health Risk | Pathogenic | Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly |