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MKKS

Synonyms
BBS6, HMCS, KMS, MKS
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
6
Likely pathogenic
1
VUS
570
Likely benign
141
Benign
46

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on MKKS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the nervous system
28.6%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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