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MBTPS1

membrane bound transcription factor peptidase, site 1

HCNC Approved Symbol
MBTPS1 (HGNC:15456)
Genomic Coordinates
16:84,053,763 - 84,116,942 (16q23.3-q24.1)
Synonyms
S1P, KIAA0091, SKI-1, PCSK8
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Spondyloepiphyseal dysplasia, Kondo-Fu type
618392AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the MBTPS1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results