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MBTPS1

Synonyms
PCSK8, S1P, SEDKF, SKI-1
External resources
Summary
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction.

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
11
Likely pathogenic
0
VUS
7,450
Likely benign
2,806
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on MBTPS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
27.3%
Abnormality of the integument
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of the nervous system
18.2%
Abnormality of limbs
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the ear
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the eye
9.1%
Abnormality of the genitourinary system
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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