SLITRK6

SLITRK6

SLITRK6

Protein-coding gene in the species Homo sapiens

SLIT and NTRK-like protein 6 is a protein that in humans is encoded by the SLITRK6 gene.[5][6]

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Function

Members of the SLITRK family, such as SLITRK6, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1). Most SLITRKs, including SLITRK6, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity.[5][6]

Clinical significance

Mutations in SLITRK6 cause high myopia and deafness in humans and mice.[7]

As a drug target

The protein is the target for the antibody-drug conjugate ASG-15ME which is in phase 1 clinical trials for urothelial cancer.[8]

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000184564 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000045871 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    Aruga J, Yokota N, Mikoshiba K (Oct 2003). "Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue". Gene. 315: 87–94. doi:10.1016/S0378-1119(03)00715-7. PMID 14557068.
  6. [6]
    "Entrez Gene: SLITRK6 SLIT and NTRK-like family, member 6".
  7. [7]
    Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH (2013). "SLITRK6 mutations cause myopia and deafness in humans and mice". J. Clin. Invest. 123 (5): 2094–102. doi:10.1172/JCI65853. PMC 3635725. PMID 23543054.
  8. [8]
    Seattle Genetics and Agensys, an Affiliate of Astellas (October 2016). "Interim Analysis of a Phase 1 Dose Escalation Trial of ASG-22CE (ASG-22ME; enfortumab vedotin), an Antibody-Drug Conjugate (ADC) in Patients with Metastatic Urothelial Cancer". Poster Abstract #788P, European Society for Medical Oncology (ESMO) Congress, Copenhagen.

Further reading


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