Loricrin

Alternative Names

  • LOR
  • Epidermal Differentiation Complex
  • EDC
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OMIM Number

152445

NCBI Gene ID

4014

Uniprot ID

P23490

Length

2,491 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Loricrin

Molecular Mass

25761 Da

Amino Acid Count

312

Genomic Location

chr1:153,259,635-153,262,125

Gene Map Locus
1q21.3

Description

This gene encodes the Loricrin protein, a structural constituent of the epidermis, which is involved in keratinocyte differentiation and cornification. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000427.2:c.648_649delGAIraqchr1:153261597-153261598PathogenicVohwinkel Syndrome, Variant FormNG_011818.1:g.6895_6896delGA; NM_000427.2:c.648_649delGA; NP_000418.2:p.Gln216Hisfs*119
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