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TMPRSS6

From Wikipedia, the free encyclopedia
TMPRSS6
Identifiers
AliasesTMPRSS6, IRIDA, transmembrane protease, serine 6, matriptase-2, transmembrane serine protease 6
External IDsOMIM: 609862; MGI: 1919003; HomoloGene: 12408; GeneCards: TMPRSS6; OMA:TMPRSS6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001289000
NM_001289001
NM_153609

NM_027902
NM_001355601

RefSeq (protein)

NP_001275929
NP_001275930
NP_705837
NP_001361433

NP_082178
NP_001342530

Location (UCSC)Chr 22: 37.07 – 37.11 MbChr 15: 78.32 – 78.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane protease, serine 6 (also known as matriptase-2) is an enzyme that in humans is encoded by the TMPRSS6 gene.[5]

Based on twin studies, mutations in TMPRSS6 gene have a correlation with iron deficiency predisposition.[6]

The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187045Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000016942Ensembl, 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. ^ a b "Entrez Gene: TMPRSS6 transmembrane protease, serine 6".
  6. ^ An P, Wu Q, Wang H, et al. TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia. Hum Mol Genet. 2012;21(9):2124-2131.

Further reading

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