P4HTM Chromosome 3
Prolyl 4-hydroxylase, transmembrane
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What This Gene Does
The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated Conditions (9)
P4HTM-related disorder
Inborn genetic diseases
Hypotonia
hypoventilation
impaired intellectual development
dysautonomia
epilepsy
and eye abnormalities
Intellectual disability
Key Variants
RS62621815
Conflicting classifications of pathogenicity
P4HTM-related disorder, Inborn genetic diseases, P4HTM-related disorder
Health Risk
RS770116680
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1413442651
Likely pathogenic
Health Risk
RS2471545464
Likely pathogenic
Hypotonia, hypoventilation, impaired intellectual development
Health Risk
RS757914897
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS758831068
Likely pathogenic
Hypotonia, hypoventilation, impaired intellectual development
Health Risk
RS1339145374
Pathogenic
Health Risk
RS1361197028
Pathogenic
Health Risk
RS1576610000
Pathogenic
Hypotonia, hypoventilation, impaired intellectual development
Health Risk
RS182812551
Pathogenic
Hypotonia, hypoventilation, impaired intellectual development
Health Risk
RS2471528764
Pathogenic
Health Risk
RS760453324
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS62621815 | Health Risk | Conflicting classifications of pathogenicity | P4HTM-related disorder, Inborn genetic diseases, P4HTM-related disorder |
| RS770116680 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1413442651 | Health Risk | Likely pathogenic | — |
| RS2471545464 | Health Risk | Likely pathogenic | Hypotonia, hypoventilation, impaired intellectual development |
| RS757914897 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS758831068 | Health Risk | Likely pathogenic | Hypotonia, hypoventilation, impaired intellectual development |
| RS1339145374 | Health Risk | Pathogenic | — |
| RS1361197028 | Health Risk | Pathogenic | — |
| RS1576610000 | Health Risk | Pathogenic | Hypotonia, hypoventilation, impaired intellectual development |
| RS182812551 | Health Risk | Pathogenic | Hypotonia, hypoventilation, impaired intellectual development |
| RS2471528764 | Health Risk | Pathogenic | — |
| RS760453324 | Health Risk | Pathogenic | — |