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FLASH GENE

Symbol

FA2H

contributors: mct/shn - updated : 17-04-2013

HGNC name	fatty acid 2-hydroxylase
HGNC id	21197

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SDWHD spasticity, dystonia, and white matter degeneration SPG35 spastic paraplegia 35
Location	16q23.1      Physical location : 74.746.857 - 74.808.729
Synonym name	fatty acid hydroxylase domain containing 1
	fatty acid alpha-hydroxylase
	fatty acid hydroxylase
	spastic paraplegia 35 (autosomal recessive)
Synonym symbol(s)	FAAH, FAXDC1, FLJ25287, SCS7, FAH1, SPG35
EC.number	1.-.-.-

DNA

TYPE	functioning gene
STRUCTURE	61.87 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D16S3018 - D16S3115 - FA2H - D16S3051 - D16S3118 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024306 7 - 2442 NP_077282 43 372 - - 15337768

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Homo sapiens Adult NM_024306   stomach       highly Mus musculus Adult NM_178086 Endocrine pancreas       lowly Homo sapiens Adult NM_024306 Nervous brain       highly Homo sapiens Adult NM_024306   brain       moderately Mus musculus Adult NM_178086 Reproductive male system testis     highly Mus musculus Adult NM_178086   male system testis     moderately Homo sapiens Adult NM_024306   male system prostate     moderately Homo sapiens Adult NM_024306 Skin/Tegument skin       highly Mus musculus Adult NM_178086 Urinary kidney       lowly Mus musculus Adult NM_178086   kidney       lowly Homo sapiens Adult NM_024306

cell lineage	expressed in cultured human keratinocytes and human epidermis
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal cytochrome b5 domain and four potential transmembrane domains
	a iron-binding histidine motif conserved among membrane-bound desaturases/hydroxylases
	a sterol desaturase domain at residues 210–367

conjugated

HemoP

HOMOLOGY

interspecies	homolog to yeast ceramide 2-hydroxylase gene (FAH1)
	ortholog to Fa2h, Mus musculus
	ortholog to Fa2h, Rattus norvegicus
	ortholog to FA2H, Pan troglodytes
	ortholog to fa2h, Danio rerio

Homologene

FAMILY	cytochrome b5 family
	SCS7 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome
text	EGFP-FA2H fusion protein co-localized with calnexin, indicating that the enzyme resides in the endoplasmic reticulum

basic FUNCTION	catalyzes the 2-hydroxylation of myelin galactolipids, galactosylceramide, and its sulfated form, sulfatide
	membrane bound hemoprotein which function as an electron carrier for membrane bound oxygenase
	involved in the formation of myelin 2-hydroxy galactosylceramides and -sulfatides
	accounts for 2-hydroxyceramide/2-hydroxyglucosylceramide synthesis in epidermis and is required for epidermal permeability barrier formation
	catalyze the initial step of straight chain fatty acid alpha-oxidation (Guo 2010)
	role in adipocyte lipogenesis possibly by modulation of raft fluidity and level of SLC2A4 (Guo 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

energetic

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SDWHD , SPG35

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	FA2H-siRNA in cultured human keratinocytes suppressed 2-hydroxylase activity and decreased 2-hydroxyceramide/2-hydroxyglucosylceramide levels in keratinocytes and contained abnormal epidermal lamellar bodies and did not form the normal extracellular lamellar membranes
	FA2H-deficient (FA2H(-/-)) mice lacked 2-hydroxylated sphingolipids in the brain and in peripheral nerves while nonhydroxylated galactosylceramide is increased
	18-month-old FA2H(-/-) mice, however, exhibited scattered axonal and myelin sheath degeneration in the spinal cord and an even more pronounced loss of stainability of myelin sheaths in sciatic nerves