FA2H
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FA2H (HGNC:21197) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
fatty acid 2-hydroxylase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FAXDC1, SPG35
Alias symbols
FAAH, FLJ25287
%HI
59.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.76(Read more about gnomAD LOEUF score)
Cytoband
16q23.1
Genomic Coordinates
GRCh37/hg19: chr16:74746867-74808718 NCBI Ensembl UCSC
GRCh38/hg38: chr16:74712969-74774820 NCBI Ensembl UCSC
MANE Select Transcript
NM_024306.5 ENST00000219368.8 (Read more about MANE Select)
Function
Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:15337768, PubMed:15863841, PubMed:17355976, PubMed:22517924). FA2H is stereospecific for the production of (R)-2- hydroxy fatty acids (PubMed:22517924). Plays an essential role in the synthesis of galactosphingolipids of the myelin sheath (By similarity). Responsible for the synthesis ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29473
ClinGen Curation ID:
CCID:007109
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hereditary spastic paraplegia 35 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)