| Gene Symbol |
PHEX
|
| Entrez Gene |
5251
|
| Alt Symbol |
HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
phosphate regulating endopeptidase homolog, X-linked
|
| Other Description |
X-linked hypophosphatemia protein|metalloendopeptidase homolog PEX|phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)|phosphate-regulating neutral endopeptidase|vitamin D-resistant hypophosphatemic rickets protein
|
| Swissprots |
O00678 P78562 Q93032 Q99827 Q2M325 Q13646
|
| Accessions |
AAD08630 ACZ05046 CAA69326 CAA71258 CBX47539 EAW98987 P78562 AD000712 AAB51604 AK298030 BAG60332 AK301528 BAG63030 AK304551 BAG65346 BC105057 AAI05058 BC105059 AAI05060 BU680665 U60475 AAC50552 U75645 AAB47749 U82970 AAC24487 U87284 AAB47562 XM_011545533 XP_011543835 XM_011545534 XP_011543836 XM_011545535 XP_011543837 XM_011545536 XP_011543838 NM_000444 NP_000435 NM_001282754 NP_001269683
|
| Function |
Probably involved in bone and dentin mineralization and renal phosphate reabsorption.
|
| Subcellular Location |
Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
|
| Tissue Specificity |
Lymphocytes and fetal brain; not in adult brain, placenta, skeletal muscle and pancreas; not in adult and fetal heart, lung, liver and kidney.
|