On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the SPTSSA was identified in a female, age 9, with severe global developmental delay, muscle tone abnormalities, spasticity and cerebral folate deficiency (read full description). 

Date of Report

Aug 20, 2020

Full Name

Serine palmitoyltransferase small subunit A

Chromsome 14 (14q13.1)


SPTSSA codes for a protein subunit responsible for stimulating serine palmitoyltransferase activity, which initiates an important rate-limiting step in sphingolipid biosynthesis (Han et al., 2009).

Database Links

GeneCards: SPTSSA

NCBI Gene: 171546

OMIM: 613540

UniProtKB/Swiss-Prot: Q969W0

Clinical Significance

A de novo change in this gene was identified in a UDN participant

Inheritance Pattern Unknown
Position (hg19) chr14:g.34904471G>A
Transcript NM_138288.3
DNA Change c.152C>T
Protein Change p.Thr51Ile
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