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FA2H fatty acid 2-hydroxylase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_024306 Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 TBD

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Gene Symbol FA2H
Entrez Gene ID 79152
Full Name fatty acid 2-hydroxylase
Synonyms FAAH, FAH1, FAXDC1, SCS7, SPG35
General protein information
Preferred Names
fatty acid 2-hydroxylase
Names
fatty acid 2-hydroxylase
fatty acid alpha-hydroxylase
fatty acid hydroxylase domain containing 1
spastic paraplegia 35 (autosomal recessive)
NP_077282.3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16q23

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].
Disorder

MIM: 611026

Leukodystrophy, dysmyelinating, and spastic paraparesis with or

mRNA Protein Product Sequence Price Select
NM_024306, 291621627 NP_077282, 205360949 fatty acid 2-hydroxylase ORF Sequence $269.00
Homo sapiens (human)FA2HNP_077282.3
Pan troglodytes (chimpanzee)FA2HXP_511106.3
Macaca mulatta (Rhesus monkey)FA2HXP_001108607.1
Canis lupus familiaris (dog)FA2HXP_853014.1
Bos taurus (cattle)FA2HNP_001179384.1
Mus musculus (house mouse)Fa2hNP_835187.2
Rattus norvegicus (Norway rat)Fa2hNP_001129055.1
Gallus gallus (chicken)FA2HXP_414053.4
Drosophila melanogaster (fruit fly)fa2hNP_610279.3
Caenorhabditis elegansCELE_C25A1.5NP_492678.1
Arabidopsis thaliana (thale cress)FAH1NP_181023.1
Xenopus (Silurana) tropicalis (western clawed frog)fa2hNP_001025677.1
Process
IDNameEvidence
GO:0001949sebaceous gland cell differentiationIEA
GO:0006633fatty acid biosynthetic processIEA
GO:0006665sphingolipid metabolic processIEA
GO:0008219cell deathIEA
GO:0030258lipid modificationIEA
GO:0032286central nervous system myelin maintenanceIEA
GO:0032287peripheral nervous system myelin maintenanceIEA
GO:0042127regulation of cell proliferationIEA
GO:0042634regulation of hair cycleIEA
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005789endoplasmic reticulum membraneIEA
GO:0016021integral component of membraneIEA
Function
IDNameEvidence
GO:0005506iron ion bindingIEA
GO:0020037heme bindingIEA
GO:0080132fatty acid alpha-hydroxylase activityIEA
GeneCards FA2H
UniProt Q7L5A8
Vega OTTHUMG00000137603
MIM 611026
Ensembl ENSG00000103089
HGNC 21197
HPRD 16873

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the FA2H gene?

The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, which are building blocks used to make fats (lipids). Specifically, fatty acid 2-hydroxylase adds a single oxygen atom to a hydrogen atom at a particular point on a fatty acid to create a 2-hydroxylated fatty acid. Certain 2-hydroxylated fatty acids are important in forming normal myelin; myelin is the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter.

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