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Gene Review:

Mkks - McKusick-Kaufman syndrome

Mus musculus

Synonyms: 1300013E18Rik, AI463362, AI957237, Bbs6, Protein Bbs6 homolog

Fath, M.A. et al.

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Disease relevance of Mkks

This model shows that the absence of Mkks leads to retinal degeneration through apoptosis, failure of spermatozoa flagella formation, elevated blood pressure and obesity [1].
McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, a congenital structural abnormality of female genitalia [1].

Psychiatry related information on Mkks

Although there is overlap in clinical features between MKS and BBS, MKS patients are not obese and do not develop retinopathy or have learning disabilities [1].

References

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Fath, M.A., Mullins, R.F., Searby, C., Nishimura, D.Y., Wei, J., Rahmouni, K., Davis, R.E., Tayeh, M.K., Andrews, M., Yang, B., Sigmund, C.D., Stone, E.M., Sheffield, V.C. Hum. Mol. Genet. (2005) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

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