MKKS Gene

Alternative Names

  • MKKS
  • MKS
  • BBS6 Gene
  • BBS6

Associated Diseases

Bardet-Biedl syndrome 6
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OMIM Number

604896

NCBI Gene ID

8195

Uniprot ID

Q9NPJ1

Length

33,231 bases

No. of Exons

7

No. of isoforms

1

Protein Name

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Molecular Mass

62342 Da

Amino Acid Count

570

Genomic Location

chr20:10,401,009-10,434,239

Gene Map Locus
20p12.2

Description

MKKS 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018848.3:c.1436C>GTunisiaNC_000020.11:g.10405524G>CPathogenicUncertain SignificanceBardet-Biedl syndrome 6NG_009109.2:g.33695C>G; NM_018848.3:c.1436C>G; NP_061336.1:p.Ser479Ter7531802141297700
NM_018848.3:c.1549C>TTunisiaNC_000020.11:g.10405411G>ABenignUncertain SignificanceBardet-Biedl syndrome 6NG_009109.2:g.33808C>T; NM_018848.3:c.1549C>T; NP_061336.1:p.Arg517Cys154795922
NM_018848.3:c.1595G>TTunisiaNC_000020.11:g.10405365C>ABenignUncertain SignificanceBardet-Biedl syndrome 6NG_009109.2:g.33854G>T; NM_018848.3:c.1595G>T; NP_061336.1:p.Gly532Val154595923
NM_170784.3:c.116C>TSaudi ArabiaNC_000020.11:g.10413399G>APathogenicLikely Pathogenic, PathogenicBardet-Biedl syndrome 6NG_009109.2:g.25820C>T; NM_170784.3:c.116C>T; NP_061336.1:p.Pro39Leu1270369106800851
NM_170784.3:c.1646T>CSaudi ArabiaNC_000020.11:g.10405314A>GLikely PathogenicBardet-Biedl syndrome 6NG_009109.2:g.33905T>C; NM_170784.3:c.1646T>C; NP_740754.1:p.Leu549Pro
NM_170784.3:c.871G>TSaudi ArabiaNC_000020.11:g.10412644C>APathogenicBardet-Biedl syndrome 6NG_009109.2:g.26575G>T; NM_170784.3:c.871G>T; NP_740754.1:p.Val291Phe910468710
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