InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FA2H

Summary

InnateDB Protein

IDBP-42192.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FA2H

Protein Name

fatty acid 2-hydroxylase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000219368

InnateDB Gene

IDBG-42190 (FA2H)

Protein Structure

UniProt Annotation

Function

Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. {ECO:0000269PubMed:15337768, ECO:0000269PubMed:17355976}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:15337768}; Multi-pass membrane protein {ECO:0000269PubMed:15337768}. Microsome membrane {ECO:0000269PubMed:15337768}; Multi-pass membrane protein {ECO:0000269PubMed:15337768}.

Disease Associations

Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. {ECO:0000269PubMed:19068277, ECO:0000269PubMed:20104589, ECO:0000269PubMed:20853438}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney. {ECO:0000269PubMed:15337768, ECO:0000269PubMed:17355976}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0016491	oxidoreductase activity
GO:0020037	heme binding
GO:0080132	fatty acid alpha-hydroxylase activity

Biological Process

GO:0001949	sebaceous gland cell differentiation
GO:0006631	fatty acid metabolic process
GO:0006633	fatty acid biosynthetic process
GO:0006665	sphingolipid metabolic process
GO:0008219	cell death
GO:0030258	lipid modification
GO:0032286	central nervous system myelin maintenance
GO:0032287	peripheral nervous system myelin maintenance
GO:0042127	regulation of cell proliferation
GO:0042634	regulation of hair cycle
GO:0055114	oxidation-reduction process