FA2H

Entrez Summary: This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010].
UniProt Summary: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. {ECO:0000269|PubMed:15337768, ECO:0000269|PubMed:17355976}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

Screen	Score
MLN-4924 2μM R00 exp22	-1.7
Radicicol 0.16μM R05 exp242	2.04

FA hydroxylase
Cyt-b5

sebaceous gland cell differentiation
fatty acid alpha-hydroxylase activity
glucosylceramide biosynthetic process
central nervous system myelin maintenance
galactolipid biosynthetic process
galactosylceramide biosynthetic process
peripheral nervous system myelin maintenance
glycosylceramide biosynthetic process
glucosylceramide metabolic process
sebaceous gland development
plasma membrane raft organization
galactosylceramide metabolic process
galactolipid metabolic process
myelin maintenance
glycosylceramide metabolic process
central nervous system myelination
axon ensheathment in central nervous system
membrane raft organization
establishment of skin barrier
glycosphingolipid biosynthetic process
regulation of water loss via skin
peripheral nervous system axon ensheathment
myelination in peripheral nervous system
regulation of hair cycle
Schwann cell development
Schwann cell differentiation
oligodendrocyte development
ceramide biosynthetic process
glycosphingolipid metabolic process
glycolipid biosynthetic process
multicellular organismal water homeostasis
oligodendrocyte differentiation
water homeostasis
peripheral nervous system development
ceramide metabolic process
sphingolipid biosynthetic process
plasma membrane organization
myelination
glial cell development
ensheathment of neurons