Loricrin

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Loricrin
Identifiers
Symbols LOR ; MGC111513
External IDs OMIM152445 MGI96816 HomoloGene68056 GeneCards: LOR Gene
RNA expression pattern
PBB GE LOR 207720 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4014 16939
Ensembl ENSG00000203782 ENSMUSG00000043165
UniProt P23490 P18165
RefSeq (mRNA) NM_000427 NM_008508
RefSeq (protein) NP_000418 NP_032534
Location (UCSC) Chr 1:
153.23 – 153.23 Mb
Chr 3:
92.08 – 92.08 Mb
PubMed search [1] [2]

Loricrin is a protein that in humans is encoded by the LOR gene.[1][2][3]

Function[edit]

Loricrin is a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells.[3]

Clinical significance[edit]

Mutations in the LOR gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases.[3]

See also[edit]

References[edit]

  1. ^ Hohl D, Mehrel T, Lichti U, Turner ML, Roop DR, Steinert PM (May 1991). "Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins". J Biol Chem 266 (10): 6626–36. PMID 2007607. 
  2. ^ Yoneda K, Hohl D, McBride OW, Wang M, Cehrs KU, Idler WW, Steinert PM (Oct 1992). "The human loricrin gene". J Biol Chem 267 (25): 18060–6. PMID 1355480. 
  3. ^ a b c "Entrez Gene: LOR loricrin". 


Further reading[edit]