Gene: PTCHD1-AS

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: PHEX

Alternate names for this Gene: HPDR|HPDR1|HYP|HYP1|LXHR|PEX|XLH

Gene Summary: The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.11

Description of this Gene: phosphate regulating endopeptidase homolog X-linked

Type of Gene: protein-coding

rs3752433 in PTCHD1-AS;PHEX gene and Aggressive behavior PMID 24489884 2014 Genome-wide association study of proneness to anger.

rs3752433 in PTCHD1-AS;PHEX gene and Anger PMID 24489884 2014 Genome-wide association study of proneness to anger.

rs1057517980 in PTCHD1-AS;PHEX gene and Hypophosphatemic Rickets, X-Linked Dominant PMID 11004247 2000 Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.

PMID 9106524 1997 Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

PMID 9199930 1997 Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

PMID 9768646 1998 A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

PMID 10737991 2000 Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

PMID 9097956 1997 Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

PMID 9768674 1998 Mutational analysis of PHEX gene in X-linked hypophosphatemia.

PMID 10439971 1999 Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

PMID 24684036 2015 Subsequently, by detection of already known mutation in the PHEX gene: c.1735G>A (p.G579R) (exon 17), XLHR was diagnosed.

PMID 11468271 2001 Our data provide a mechanism for loss of PHEX function in XLH patients expressing the C85R, G579R and S711R mutations.

PMID 12727977 2003 Secreted forms of wild-type and mutant PHEX proteins were generated by PCR mutagenesis; these included C85R, D237G, Y317F, G579R, G579V, S711R, A720T, and F731Y identified in XLH patients, and E581V, which in neutral endopeptidase 24.11 abolishes catalytic activity but not plasma membrane localization.