Entity Details

Primary name FA2H_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7L5A8
EntryNameFA2H_HUMAN
FullNameFatty acid 2-hydroxylase
TaxID9606
Evidenceevidence at protein level
Length372
SequenceStatuscomplete
DateCreated2007-12-04
DateModified2021-06-02

Ontological Relatives

GenesFA2H

GO terms

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GOName
GO:0001949 sebaceous gland cell differentiation
GO:0005506 iron ion binding
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006679 glucosylceramide biosynthetic process
GO:0006682 galactosylceramide biosynthetic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0020037 heme binding
GO:0030148 sphingolipid biosynthetic process
GO:0030258 lipid modification
GO:0032286 central nervous system myelin maintenance
GO:0032287 peripheral nervous system myelin maintenance
GO:0042127 regulation of cell population proliferation
GO:0042634 regulation of hair cycle
GO:0044857 plasma membrane raft organization
GO:0046513 ceramide biosynthetic process
GO:0061436 establishment of skin barrier
GO:0080132 fatty acid alpha-hydroxylase activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Microsome membrane

Domains

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DomainNameCategoryType
IPR001199 Cytochrome b5-like heme/steroid binding domainDomainDomain
IPR006694 Fatty acid hydroxylaseDomainDomain
IPR014430 Sterol desaturase Scs7FamilyFamily
IPR018506 Cytochrome b5, heme-binding siteSiteBinding site
IPR036400 Cytochrome b5-like heme/steroid binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612319 OMIMSpastic paraplegia 35, autosomal recessive (SPG35)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

33 interactions

InteractorPartnerSourcesPublicationsLink
FA2H_HUMANMSRE_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANDLG2_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANERLN1_HUMANBioGRID, IntAct25416956 32296183 details
FA2H_HUMANCR3L1_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANASGR2_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANTLCD4_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANSGPL1_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANGPX8_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANERGI3_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANGP152_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANEBP_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANF209A_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANELOV4_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANMARH8_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANAQP6_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANCD79A_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANSOAT_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANPGRC2_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANTMX2_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANTM41A_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANARM12_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANTM14B_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANPEX12_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANRIC3_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANSYT2_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANNTCP_HUMANBioGRID, IntAct32296183 details
FA2H_HUMANGPR37_HUMANBioGRID, MINT28298427 details
FA2H_HUMANCREB3_HUMANBioGRID, IntAct21516116 31515488 details
FA2H_HUMANDYHC1_HUMANIntAct32814053 details
FA2H_HUMANKLK6_HUMANIntAct32814053 details
FA2H_HUMANUBQL4_HUMANBioGRID, HPRD16713569 details
FA2H_HUMANLMNA_HUMANBioGRID24623722 details
FA2H_HUMANFCERG_HUMANBioGRID32296183 details