QuickView for SPG35 (gene)

Gene Symbol:

FA2H Homo sapiens

Full name:

fatty acid 2-hydroxylase

Synonyms:

FAAH, FAH1, FAXDC1, SCS7, SPG35, fatty acid 2-hydroxylase, fatty acid alpha-hydroxylase, fatty acid hydroxylase domain containing 1, spastic paraplegia 35 (autosomal recessive)

Genomic Location:

Chr 16: 73304359-73366224

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 exis...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GCANCTGNY_MYOD_Q6 ,  TACTTGA_MIR26A_MIR26B ,  AR_Q6 ,  CAGGTG_E12_Q6 ,  TGCCTTA_MIR124A ,  NFY_01 ,  AREB6_03

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-26 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-124u ,  Predicted Gene Targets for miR-496

miRNA binding sites
(Source: miRecords):

hsa-miR-124 Targeted Genes

Cytogenetic Map:

16q23.1

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