PHEX |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PHEX (HGNC:8918) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- phosphate regulating endopeptidase X-linked
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HYP, HPDR
- Alias symbols
- PEX, HPDR1, HYP1, XLH
- %HI
- 6.97(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.14(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.11
- Genomic Coordinates
-
GRCh37/hg19: chrX:22050443-22269427 NCBI Ensembl UCSC GRCh38/hg38: chrX:22032325-22251310 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000444.6 ENST00000379374.5 (Read more about MANE Select)
- Function
- Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:9593714, PubMed:15664000, PubMed:18162525, PubMed:18597632). Cleaves ASARM peptides between Ser and Glu or Asp residues (PubMed:18597632). Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide (PubMed:18597632). Promotes dentin mineralization and renal phosphate reabsorpti... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- X-linked dominant hypophosphatemic rickets Monarch
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.