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)
Triplosensitivity:
Not Yet Evaluated
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)