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Gene : MKKS Homo sapiens

Name  ? McKusick-Kaufman syndrome Cytological Location  20p12.2
Brief Description  McKusick-Kaufman syndrome
Description  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, Nov 2013]
  • synonyms:
  • HGNC:7108,
  • NM_018848,
  • BBS6,
  • KMS,
  • MKS,
  • HMCS,
  • MKKS,
  • BBS6,
  • OTTHUMG00000031868,
  • uc002wnu.3,
  • AF221993
  • identifiers:
  • 8195,
  • ENSG00000125863,
  • MKKS

Genome feature

Region: gene ? Length: 33231  
Location: 20:10401009-10434239 reverse strand Cyto location: 20p12.2

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2 Diseases

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3756 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results