MKKS Chromosome 20
MKKS centrosomal shuttling protein
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What This Gene Does
This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2023]
Gene Info
Gene Group
Chaperonins
Locus Type
gene with protein product
Location
20p12.2
Ensembl
ENSG00000125863
Associated Conditions (18)
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome
MKKS-related disorder
Inborn genetic diseases
Early onset severe obesity
Retinal dystrophy
Progressive cone dystrophy (without rod involvement)
BARDET-BIEDL SYNDROME 2/6
DIGENIC
Nephronophthisis
Uterine corpus endometrial carcinoma
Syndromic inherited retinal disease
MKKS-related ciliopathy
Multicystic kidney dysplasia
Polycystic kidney disease
Bardet-Biedl syndrome 1
modifier of
Key Variants
RS1010755325
Conflicting classifications of pathogenicity
McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
Health Risk
RS113032343
Conflicting classifications of pathogenicity
McKusick-Kaufman syndrome, Bardet-Biedl syndrome, Bardet-Biedl syndrome 6
Health Risk
RS1270369106
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, MKKS-related disorder
Health Risk
RS1297985227
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
Health Risk
RS137853909
Conflicting classifications of pathogenicity
McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
Health Risk
RS1396840386
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
RS1412422841
Conflicting classifications of pathogenicity
MKKS-related disorder, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
Health Risk
RS144313303
Conflicting classifications of pathogenicity
McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
Health Risk
RS144892179
Conflicting classifications of pathogenicity
McKusick-Kaufman syndrome, Bardet-Biedl syndrome, MKKS-related disorder
Health Risk
RS145396188
Conflicting classifications of pathogenicity
McKusick-Kaufman syndrome, Bardet-Biedl syndrome, Bardet-Biedl syndrome 6
Health Risk
RS147545395
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
Health Risk
RS147704542
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
Health Risk
All Variants (134)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2514496343 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS2514496360 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS2514496958 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS2514497096 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6 |
| RS2514497482 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS2514497703 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS2514498287 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS372096815 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS751923973 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6 |
| RS771934394 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS777446581 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, MKKS-related disorder |
| RS910468710 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS1064793714 | Health Risk | Pathogenic | — |
| RS113994195 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS113994196 | Health Risk | Pathogenic | Bardet-Biedl syndrome, MKKS-related disorder, Bardet-Biedl syndrome |
| RS1224308508 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS1225932577 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6 |
| RS1306231185 | Health Risk | Pathogenic | Progressive cone dystrophy (without rod involvement), Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS137853154 | Health Risk | Pathogenic | BARDET-BIEDL SYNDROME 2/6, DIGENIC, BARDET-BIEDL SYNDROME 2/6 |
| RS1421664374 | Health Risk | Pathogenic | McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS142394051 | Health Risk | Pathogenic | Inborn genetic diseases, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome |
| RS1555802009 | Health Risk | Pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS1568662687 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1568666460 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1600849412 | Health Risk | Pathogenic | McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS200633158 | Health Risk | Pathogenic | Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6 |
| RS2064851971 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, MKKS-related disorder |
| RS2064903228 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2064905664 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2122220131 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2122223967 | Health Risk | Pathogenic | McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS2122226112 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2122233990 | Health Risk | Pathogenic | McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS2122234387 | Health Risk | Pathogenic | McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS2122234652 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2122235619 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2122236167 | Health Risk | Pathogenic | McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS2122236468 | Health Risk | Pathogenic | McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS2514487000 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2514489090 | Health Risk | Pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6 |
| RS2514489097 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2514490284 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2514490367 | Health Risk | Pathogenic | McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS2514495504 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2514497043 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2514497554 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS2514498304 | Health Risk | Pathogenic | Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS281797259 | Health Risk | Pathogenic | BARDET-BIEDL SYNDROME 2/6, DIGENIC, BARDET-BIEDL SYNDROME 2/6 |
| RS587777827 | Health Risk | Pathogenic | Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome |
| RS74315397 | Health Risk | Pathogenic | Bardet-Biedl syndrome 6, Bardet-Biedl syndrome, Bardet-Biedl syndrome 6 |