MKS1

MKS1
Meckel syndrome, type 1
Identifiers
Symbols MKS1; BBS13; FLJ20345; MES; MKS; POC12
External IDs OMIM609883 MGI3584243 HomoloGene9833 GeneCards: MKS1 Gene
Orthologs
Species Human Mouse
Entrez 54903 380718
Ensembl ENSG00000011143 ENSMUSG00000034121
UniProt Q9NXB0 Q5SW45
RefSeq (mRNA) NM_001165927.1 NM_001039684.2
RefSeq (protein) NP_001159399.1 NP_001034773.2
Location (UCSC) Chr 17:
56.28 – 56.3 Mb
Chr 11:
87.67 – 87.68 Mb
PubMed search [1] [2]

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.[1]

Contents

Function

The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.[2]

Clinical significance

Mutations in the MKS1 are associated with Meckel syndrome[1][3] or Bardet-Biedl syndrome.[4]

References

  1. ^ a b Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M (February 2006). "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome". Nat. Genet. 38 (2): 155–7. doi:10.1038/ng1714. PMID 16415886. 
  2. ^ Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA (January 2007). "The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation". Hum. Mol. Genet. 16 (2): 173–86. doi:10.1093/hmg/ddl459. PMID 17185389. 
  3. ^ Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC (June 2007). "Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3". Hum. Genet. 121 (5): 591–9. doi:10.1007/s00439-007-0341-3. PMID 17377820. 
  4. ^ Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N (April 2008). "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome". Nat. Genet. 40 (4): 443–8. doi:10.1038/ng.97. PMID 18327255. 

Further reading

External links




Wikimedia Foundation. 2010.

Игры ⚽ Нужна курсовая?

Look at other dictionaries:

  • Meckel syndrome — Classification and external resources ICD 10 Q61.9 OMIM 249000 DiseasesDB …   Wikipedia

  • TMEM67 — Transmembrane protein 67, also known as TMEM67, is a human gene.cite web | title = Entrez Gene: TMEM67 transmembrane protein 67| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=91147| accessdate = ] PBB… …   Wikipedia

  • Ciliopathy — Classification and external resources Eukaryotic cilium DiseasesDB 29887 …   Wikipedia

  • Синдром Меккель-Грубера — OMIM 249000 249000 Синдром Мекель Грубера (англ. Meckel Gruber syndrome) генетическая патология человека, относящаяся к группе цилиопатий. Впервые описан немецким врачом Иоганном Меккелем в 1822 году …   Википедия

  • NPHP1 — Nephronophthisis 1 (juvenile) PDB rendering based on 1s1n …   Wikipedia

  • CEP290 — Centrosomal protein 290kDa Identifiers Symbols CEP290; 3H11Ag; BBS14; CT87; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; MKS4; NPHP6; POC3; SLSN6; rd16 External IDs …   Wikipedia

  • OFD1 — Oral facial digital syndrome 1 Identifiers Symbols OFD1; 71 7A; CXorf5; JBTS10; MGC117039; MGC117040; SGBS2 External IDs …   Wikipedia

  • INVS — Inversin Identifiers Symbols INVS; INV; KIAA0573; MGC133080; MGC133081; NPH2; NPHP2 External IDs …   Wikipedia

  • DNAH5 — Dynein, axonemal, heavy chain 5 Identifiers Symbols DNAH5; CILD3; DNAHC5; FLJ46759; HL1; KIAA1603; KTGNR; PCD External IDs …   Wikipedia

  • DNAI1 — Dynein, axonemal, intermediate chain 1 Identifiers Symbols DNAI1; CILD1; ICS; ICS1; MGC26204; PCD External IDs …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”