CYP4F22 R243H [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5602296
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Cytochrome P450 4F22, CP4FN_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
CYP4F22
Chain
chain:1-531
Other Identifiers
11733532_at
11733533_at
126410
16859117
244692_PM_at
244692_at
3823211
3823215
3823217
3823218
3823219
3823220
3823221
3823222
3823223
3823225
3823227
3823228
3823229
3823231
3823232
3823233
8026424
91481_at
GE85609
GO:0003824
GO:0004497
GO:0005506
GO:0005515
GO:0005783
GO:0005789
GO:0006629
GO:0006690
GO:0016020
GO:0016491
GO:0016705
GO:0020037
GO:0043226
GO:0043231
GO:0046513
GO:0046872
HMNXSV003000467
Hs.156452.0.A1_3p_at
ILMN_1708303
PH_hs_0009443
TC19000272.hg
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 243 replaced with L-histidine
Coordinate
243
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
autosomal recessive congenital ichthyosis DOID:0060655 lamellar ichthyosis, Ichthyosiform erythroderma, Alligator skin, nonbullous congenital ichthyosiform erythroderma, Congenital non bullous ichthyosiform erythroderma
Cross References
Guide to Pharmacology - Targets
OpenTargets
IntEnz
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
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