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Rabbit Anti-HSPC014/C13orf12 antibody
The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
Function:
Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum.
Subcellular Location:
Cytoplasm > cytosol. Nucleus. Microsome membrane.
Tissue Specificity:
Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer.
DISEASE:
Defects in POMP are the cause of keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) [MIM:601952]. KLICK is a keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer.
Similarity:
Belongs to the POMP/UMP1 family.
SWISS:
Q9Y244
Gene ID:
51371
Database links:
Entrez Gene: 51371 Human
Entrez Gene: 66537 Mouse
Entrez Gene: 288455 Rat
Omim: 613386 Human
SwissProt: Q9Y244 Human
SwissProt: Q9CQT5 Mouse
Unigene: 268742 Human
Unigene: 332855 Mouse
Unigene: 28242 Rat
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