Late endosomal/lysosomal adaptor, mapk and mtor activator 1

Last updated
LAMTOR1
Identifiers
Aliases LAMTOR1 , C11orf59, PDRO, Ragulator1, p18, p27RF-Rho, late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
External IDs OMIM: 613510 MGI: 1913758 HomoloGene: 9909 GeneCards: LAMTOR1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017907

NM_025605

RefSeq (protein)

NP_060377

NP_079881

Location (UCSC) Chr 11: 72.09 – 72.1 Mb Chr 7: 101.56 – 101.58 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 is a protein that in humans is encoded by the LAMTOR1 gene. [5]

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P14 deficiency is a rare autosomal recessive disease characterized as a primary immunodeficiency syndrome. This disease was first identified within a white Mennonite family by Professor Bodo Grimbacher and Professor Christoph Klein’s teams in 2006. Four out of 15 offspring in this family showed symptoms including short stature, recurrent infection of Streptococcus pneumonia, and dysfunction of cells that contain specific lysosome-related organelles, including cytotoxic T cells, melanocytes, and neutrophil granulocytes.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000149357 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030842 - Ensembl, 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. "Entrez Gene: Late endosomal/lysosomal adaptor, MAPK and MTOR activator 1" . Retrieved 2018-10-01.

Further reading