POMP

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VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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View/Edit Human

Proteasome maturation protein is a protein that in humans is encoded by the POMP gene.[1][2] 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.[3]

References

  1. Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, et al. (October 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Research. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
  2. "Entrez Gene: POMP proteasome maturation protein".
  3. Foley CC, Paller AS, Irvine AD (2015). "Chapter 19: Disorders of cornification (icthyosis)". In Eichenfield LF, Frieden IJ. Neonatal and infant dermatology (3rd ed.). Elsevier Inc. p. 301. ISBN 978-1-4557-2638-7.

Further reading