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P4HA1

Synonyms
P4HA
External resources
Summary
This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
0
VUS
1,609
Likely benign
4,605
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on P4HA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
80%
Abnormality of the musculoskeletal system
60%
Abnormality of head or neck
50%
Abnormality of limbs
30%
Abnormality of the digestive system
30%
Abnormality of the ear
30%
Abnormality of the integument
30%
Growth abnormality
30%
Abnormality of the endocrine system
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of blood and blood-forming tissues
10%
Abnormality of prenatal development or birth
10%
Abnormality of the cardiovascular system
10%
Abnormality of the respiratory system
10%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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