Also known as C13orf12, PNAS-110, UMP1, HSPC014, proteasome maturation protein, PRAAS2
Proteasome maturation protein is a protein that in humans is encoded by the POMP gene. It is a short-lived maturation factor required for 20S proteasome subunit biogenesis.
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].
via MyGene.info
Proteasome maturation protein is a protein that in humans is encoded by the POMP gene. It is a short-lived maturation factor required for 20S proteasome subunit biogenesis.
A single nucleotide deletion in this gene causes an autosomal recessive skin disorder, keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).