CYP4F22 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CYP4F22 (HGNC:26820) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cytochrome P450 family 4 subfamily F member 22
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ39501
- %HI
- 70.99(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.77(Read more about gnomAD LOEUF score)
- Cytoband
- 19p13.12
- Genomic Coordinates
-
GRCh37/hg19: chr19:15619336-15663128 NCBI Ensembl UCSC GRCh38/hg38: chr19:15508525-15552317 NCBI Ensembl UCSC - MANE Select Transcript
- NM_173483.4 ENST00000269703.8 (Read more about MANE Select)
- Function
- A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega- hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesis (PubMed:26056268). Contributes to the synthesis of three classes of omega-hydroxy-ultra-long chain fatty acylceramides having sphingosine, 6-hydroxysphingosine and phytosphingosine bases, all major lipid components that underlie the permeability barrier of the stratum corneum (PubMed:26056268). M... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-16915
ClinGen Curation ID:
CCID:006967
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- autosomal recessive congenital ichthyosis 5 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)