LZTR1

LZTR1
Identifiers
Aliases LZTR1, BTBD29, LZTR-1, SWNTS2, NS10, leucine-zipper-like transcription regulator 1
External IDs MGI: 1914113 HomoloGene: 4925 GeneCards: LZTR1
RNA expression pattern
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_006758.2

NP_080084.2

Location (UCSC) Chr 22: 20.98 – 21 Mb Chr 16: 17.51 – 17.53 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Leucine-zipper-like transcriptional regulator 1 is a protein that in humans is encoded by the LZTR1 gene.[3][4][5]

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.[5]

Clinical significance

Deletion of this gene may be associated with DiGeorge syndrome.[5]

This gene has also been implicated in an autosomal dominant form of schwannomatosis.[6]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 3 "Entrez Gene: LZTR1 leucine-zipper-like transcription regulator 1".
  6. 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


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