Porcupine O-Acyltransferase

Alternative Names

  • PORCN
  • Porcupine, Drosophila, Homolog of
  • PORC

Associated Diseases

Focal Dermal Hypoplasia
Back to search Result
OMIM Number

300651

NCBI Gene ID

64840

Uniprot ID

Q9H237

Length

11856 bases

No. of Exons

15

No. of isoforms

5

Protein Name

Protein-serine O-palmitoleoyltransferase porcupine

Molecular Mass

52318Da

Amino Acid Count

461

Genomic Location

chrX:48508959-48520814

Gene Map Locus
Xp11.23

Description

The PORCN gene consists of 15 exons and it encodes an endoplasmic reticulum transmembrane protein known as protein-serine O-palmitoleoyltransferase porcupine, which belongs to the evolutionarily conserved porcupine (Porc) family. PORCN gene product plays a key role in the regulation of Wnt signalling pathway by mediating the palmitoylation of WNT proteins. Loss of function mutations in the PORCN gene interferes with the normal functioning of Wnt signalling pathway, consequently disrupting the downstream processes that are controlled by WNT proteins such as body-axis patterning, cell proliferation, cell migration and other cell responses. Variations in PORCN gene are associated with focal dermal hypoplasia, where it is believed to affect the normal dermal tissue development in patients. In addition, mutation in PORCN gene is also known to be involved in Wnt-driven tumorigenesis.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_203475.2:c.848_854dupLebanonNC_000023.11:g.48514527_48514533dupFocal Dermal HypoplasiaNM_203475.2:c.848_854dup; NP_982301.1:p.Val286ProfsTer32
NM_203475.3:c.268C>TSaudi ArabiaNC_000023.11:g.48511426C>TPathogenicPathogenicFocal Dermal HypoplasiaNG_009278.1:g.7444C>T; NM_203475.3:c.268C>T; NP_982301.1:p.Arg90Ter1114167283242872
© CAGS 2024. All rights reserved.