PORCN |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PORCN (HGNC:17652) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- porcupine O-acyltransferase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DHOF
- Alias symbols
- MG61, PORC, PPN, por
- %HI
- 12.63(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.14(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.23
- Genomic Coordinates
-
GRCh37/hg19: chrX:48367380-48379202 NCBI Ensembl UCSC GRCh38/hg38: chrX:48508992-48520814 NCBI Ensembl UCSC - MANE Select Transcript
- NM_203475.3 ENST00000326194.11 (Read more about MANE Select)
- Function
- Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1(9Z)), to Wnt proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors. {ECO:0000250|UniProtKB:Q9JJJ7, ECO:0000269|PubMed:12034504, ECO:0000269|PubMed:20826466, ECO:0000269|PubMed:24292069}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- focal dermal hypoplasia Monarch
-
PUBMED:
17546030
Wang et al. (2007) report on 15 females with confirmed or suspected focal dermal hypoplasia (FDH). Sequencing of the PORCN gene in these individuals revealed mutations in 10 of the 15 individuals, with nonsense mutations and frameshift mutations resulting in premature stop codon present in the majority of individuals with PORCN mutations.
-
PUBMED:
17546031
Grzeschik et al. (2007) describe loss of function mutations of the PORCN gene in 8 unrelated individuals with FDH.
-
PUBMED:
20854095
Fernandes et al. (2010) describe their experience with clinical genetic testing of the PORCN gene in individuals with FDH. Mutations were found in 18 out of 53 patients tested (34%).
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.