• Gene id: 79152

Gene Summary

• Gene Symbol: FA2H   Gene   UCSC   Ensembl
• Aliases: FAAH, FAH1, FAXDC1, SCS7, SPG35
• Gene name: fatty acid 2-hydroxylase
• Alternate names: fatty acid 2-hydroxylase, fatty acid alpha-hydroxylase, fatty acid hydroxylase domain containing 1, fatty acid hydroxylase domain-containing protein 1, spastic paraplegia 35 (autosomal recessive),
• Gene location: 16q23.1 (74774830: 74712954)     Exons: 8     NC_000016.10
• Gene summary(Entrez): 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 o
• OMIM: 611026

Protein Summary

• Protein general information: Q7L5A8  
  • Name: Fatty acid 2 hydroxylase (EC 1.14.18. ) (Fatty acid alpha hydroxylase) (Fatty acid hydroxylase domain containing protein 1)
  • Length: 372  
  • Mass: 42791
  • Tissue specificity: Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes (PubMed
• Sequence:

  MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISADLDGPPHRHSANARR
  WLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWDKDLVDWRKPLLWQVGHLGEKYDEWVHQPVT
  RPIRLFHSDLIEGLSKTVWYSVPIIWVPLVLYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFL
  WSLIEYLIHRFLFHMKPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV
  FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFHTLTPEKPHLKTQ

• Structural information:
  • Protein Domains: (8..8-)
    heme-binding (/note="Cytochrome-b5)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00279-)
    (219..36-)
    hydroxylase (/note="Fatty-acid)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR001199  IPR036400  IPR018506  IPR006694  IPR014430  
  • Prosite: PS00191 PS50255
  • STRING: ENSP00000219368
• Other Databases: GeneCards:  FA2H  Malacards:  FA2H

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0080132	fatty acid alpha-hydroxylase activity	IBA	molecular function
GO:0006631	fatty acid metabolic process	IBA	biological process
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0080132	fatty acid alpha-hydroxylase activity	IDA	molecular function
GO:0080132	fatty acid alpha-hydroxylase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0080132	fatty acid alpha-hydroxylase activity	IDA	molecular function
GO:0006682	galactosylceramide biosynthetic process	ISS	biological process
GO:0006682	galactosylceramide biosynthetic process	ISS	biological process
GO:0061436	establishment of skin barrier	IMP	biological process
GO:0080132	fatty acid alpha-hydroxylase activity	IMP	molecular function
GO:0006679	glucosylceramide biosynthetic process	ISS	biological process
GO:0044857	plasma membrane raft organization	ISS	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0008610	lipid biosynthetic process	IEA	biological process
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0080132	fatty acid alpha-hydroxylase activity	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0080132	fatty acid alpha-hydroxylase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001949	sebaceous gland cell differentiation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006682	galactosylceramide biosynthetic process	IEA	biological process
GO:0030258	lipid modification	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0042634	regulation of hair cycle	IEA	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0006682	galactosylceramide biosynthetic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006679	glucosylceramide biosynthetic process	IEA	biological process
GO:0032286	central nervous system myelin maintenance	IEA	biological process
GO:0032287	peripheral nervous system myelin maintenance	IEA	biological process
GO:0044857	plasma membrane raft organization	IEA	biological process
GO:0080132	fatty acid alpha-hydroxylase activity	IEA	molecular function
GO:0080132	fatty acid alpha-hydroxylase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0006682	galactosylceramide biosynthetic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray