PHYH
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PHYH (HGNC:8940) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phytanoyl-CoA 2-hydroxylase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PAHX, RD, PHYH1
%HI
73.67(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.15(Read more about gnomAD LOEUF score)
Cytoband
10p13
Genomic Coordinates
GRCh37/hg19: chr10:13319799-13342064 NCBI Ensembl UCSC
GRCh38/hg38: chr10:13277799-13300064 NCBI Ensembl UCSC
MANE Select Transcript
NM_006214.4 ENST00000263038.9 (Read more about MANE Select)
Function
Catalyzes the 2-hydroxylation of not only racemic phytanoyl- CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:9326939, PubMed:10744784, PubMed:12031666, PubMed:12923223). Does not hydroxylate long and very long straight chain acyl-CoAs or 2- methyl- and 4-methyl-branched acyl-CoAs (Pub... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36873
ClinGen Curation ID:
CCID:007663
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:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)