Sequence in raw or FASTA format:
LOR loricrin [Homo sapiens (human)]
|Entrez Gene ID||4014|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008].|
Vohwinkel syndrome with ichthyosis, 604117 (3)
|GO:0005198||structural molecule activity||IDA|
|GO:0005200||structural constituent of cytoskeleton||TAS|
|GO:0030674||protein binding, bridging||IDA|
What is the normal function of the LOR gene?
The LOR gene is part of a cluster of genes on chromosome 1 called the epidermal differentiation complex. These genes are involved in the formation and maintenance of the outer layer of skin (the epidermis), particularly its tough outer surface (the stratum corneum). The stratum corneum, which is formed in a process known as cornification, provides a sturdy barrier between the body and its environment. Each cell of the stratum corneum, called a corneocyte, is surrounded by a protein shell called a cornified envelope.
The LOR gene provides instructions for making a protein called loricrin, which is a major component of the cornified envelope. Links between loricrin and other components of the envelopes hold the corneocytes together and help give the stratum corneum its strength.
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