LZTR1

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Leucine-zipper-like transcription regulator 1
Identifiers
Symbols LZTR1 ; BTBD29; LZTR-1; SWNTS2
External IDs OMIM600574 MGI1914113 HomoloGene4925 GeneCards: LZTR1 Gene
RNA expression pattern
PBB GE LZTR1 203412 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8216 66863
Ensembl ENSG00000099949 ENSMUSG00000022761
UniProt Q8N653 Q9CQ33
RefSeq (mRNA) NM_006767 NM_025808
RefSeq (protein) NP_006758 NP_080084
Location (UCSC) Chr 22:
21.33 – 21.35 Mb
Chr 16:
17.51 – 17.53 Mb
PubMed search [1] [2]

Leucine-zipper-like transcriptional regulator 1 is a protein that in humans is encoded by the LZTR1 gene.[1][2][3]

This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Golgi complex.[3]

Clinical significance[edit]

Deletion of this gene may be associated with DiGeorge syndrome.[3]

This gene has also been implicated in an autosomal dominant form of schwannomatosis.[4]

References[edit]

  1. ^ Kurahashi H, Akagi K, Inazawa J, Ohta T, Niikawa N, Kayatani F, Sano T, Okada S, Nishisho I (Sep 1995). "Isolation and characterization of a novel gene deleted in DiGeorge syndrome". Hum Mol Genet 4 (4): 541–9. doi:10.1093/hmg/4.4.541. PMID 7633402. 
  2. ^ Nacak TG, Leptien K, Fellner D, Augustin HG, Kroll J (Feb 2006). "The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis". J Biol Chem 281 (8): 5065–71. doi:10.1074/jbc.M509073200. PMID 16356934. 
  3. ^ a b c "Entrez Gene: LZTR1 leucine-zipper-like transcription regulator 1". 
  4. ^ Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM (Dec 2013). "Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas". Nat Genet 46 (2): 182–7. doi:10.1038/ng.2855. PMID 24362817. 

Further reading[edit]