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Gene : FA2H Homo sapiens

Name  ? fatty acid 2-hydroxylase Cytological Location  16q23.1
Brief Description  fatty acid 2-hydroxylase
Description  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]
  • synonyms:
  • OTTHUMG00000137603,
  • FAXDC1,
  • SPG35,
  • FLJ25287,
  • FAAH,
  • SPG35,
  • HGNC:21197,
  • NM_024306,
  • FAH1,
  • FA2H,
  • fatty acid hydroxylase domain containing 1,
  • SCS7,
  • spastic paraplegia 35 (autosomal recessive),
  • uc002fde.3,
  • FAAH,
  • BC002679,
  • fatty acid hydroxylase,
  • FAXDC1
  • identifiers:
  • 79152,
  • ENSG00000103089,
  • FA2H

Genome feature

Region: gene ? Length: 61877  
Location: 16:74712955-74774831 reverse strand Cyto location: 16q23.1


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Disease

1 Diseases

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692 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results