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MERTK

From Wikipedia, the free encyclopedia
MERTK
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMERTK, MER, RP38, c-mer, Tyro12, c-Eyk, MER proto-oncogene, tyrosine kinase
External IDsOMIM: 604705; MGI: 96965; HomoloGene: 4626; GeneCards: MERTK; OMA:MERTK - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006343

NM_008587

RefSeq (protein)

NP_006334

NP_032613

Location (UCSC)Chr 2: 111.9 – 112.03 MbChr 2: 128.54 – 128.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Proto-oncogene tyrosine-protein kinase MER is an enzyme that in humans is encoded by the MERTK gene.[5][6][7]

Function

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This gene is a member of the TYRO3/AXL/MER (TAM) receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP).[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000153208Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014361Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Graham DK, Dawson TL, Mullaney DL, Snodgrass HR, Earp HS (June 1994). "Cloning and mRNA expression analysis of a novel human protooncogene, c-mer". Cell Growth & Differentiation. 5 (6): 647–57. PMID 8086340.
  6. ^ Weier HU, Fung J, Lersch RA (Jun 1999). "Assignment of protooncogene MERTK (a.k.a. c-mer) to human chromosome 2q14.1 by in situ hybridization". Cytogenetics and Cell Genetics. 84 (1–2): 91–2. doi:10.1159/000015223. PMID 10343112. S2CID 43714175.
  7. ^ a b "Entrez Gene: MERTK c-mer proto-oncogene tyrosine kinase".

Further reading

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