P4HTM prolyl 4-hydroxylase, transmembrane

Gene ID: 54681, updated on 17-Jun-2024
Gene type: protein coding
Also known as: PH4; PH-4; PHD4; EGLN4; HIDEA; HIFPH4; P4H-TM

Summary

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

See all available tests in GTR for this gene

Description	Tests
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MedGen: C5193124OMIM: 618493GeneReviews: Not available	See labs

Genomic context

Location:: 3p21.31; 3p21.3

Sequence:: Chromosome: 3; NC_000003.12 (48989908..49007153)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for P4HTM variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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