CYP4F22 (cytochrome P450 family 4 subfamily F member 22)

2014-11-01  

Identity

HGNC
CYP4F22
LOCATION
19p13.12
LOCUSID
126410
ALIAS
ARCI5,INLNE,LI3

Other Information

Locus ID:

NCBI: 126410
MIM: 611495
HGNC: 26820
Ensembl: ENSG00000171954

Variants:

dbSNP: 126410
ClinVar: 126410
TCGA: ENSG00000171954
COSMIC: CYP4F22

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171954ENST00000269703Q6NT55
ENSG00000171954ENST00000601005Q6NT55

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Arachidonic acid metabolismREACTOMER-HSA-2142753
Synthesis of Leukotrienes (LT) and Eoxins (EX)REACTOMER-HSA-2142691
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Fatty acidsREACTOMER-HSA-211935
EicosanoidsREACTOMER-HSA-211979
Miscellaneous substratesREACTOMER-HSA-211958

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
330670362021Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.2
330670362021Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.2
320692992020Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.4
320692992020Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.4
310206582019A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.4
310206582019A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.4
300111182018Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.12
300111182018Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.12
277350522017Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.3
277350522017Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.3
266467732016Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.0
266467732016Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.0
238714232013Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.6
238714232013Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.6
222093172012CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.1

Citation

Dessen P

CYP4F22 (cytochrome P450 family 4 subfamily F member 22)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62261/teaching-explorer/meetings/js/lib/all.min.js