• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CYP4V2 (HGNC:23198) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cytochrome P450 family 4 subfamily V member 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CYP4AH1
%HI
70.46(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.03(Read more about gnomAD LOEUF score)
Cytoband
4q35.1-q35.2
Genomic Coordinates
GRCh37/hg19: chr4:187112721-187134617 NCBI Ensembl UCSC
GRCh38/hg38: chr4:186191567-186213463 NCBI Ensembl UCSC
MANE Select Transcript
NM_207352.4 ENST00000378802.5 (Read more about MANE Select)
Function
A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs (PubMed:22772592). Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16) (PubMed:196612... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13117
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:
  • Bietti crystalline corneoretinal dystrophy Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)