FA2H

GENE INFORMATION

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Gene name

FA2H (HGNC Symbol)

Synonyms

FAAH, FAXDC1, FLJ25287, SPG35

Description

fatty acid 2-hydroxylase (HGNC Symbol)

Entrez gene 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]

Chromosome

16 (Chromosome progress)

Cytoband

q23.1

Chromosome location (bp)

74746853 - 74808729

Ensembl

ENSG00000103089 (version 73.37)

Entrez gene

79152

UniProt

Q7L5A8 (UniProt - Evidence at protein level)

neXtProt

NX_Q7L5A8

Antibodypedia

FA2H antibodies
 

PROTEIN VIEW

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FA2H-001
 
FA2H-002
 
FA2H-004
 
FA2H-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FA2H-001 ENSP00000219368
ENST00000219368
Q7L5A8
Show all »
Show » Show » 372 42.8 No 4
FA2H-002 ENSP00000455126
ENST00000567683
H3BP32
Show all »
Show » 156 17 No 0
FA2H-004 ENSP00000464576
ENST00000569949
J3QS89
Show all »
Show » 192 22.6 No 2
FA2H-201 ENSP00000442334
ENST00000544337
B7Z8T6
Show all »
Show » Show » 159 18.3 No 3