SPTSSA

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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene 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

Location
Chromsome 14 (14q13.1)
SPTSSA.png

Function

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: GC14M034432

NCBI Gene: 171546

OMIM: 613540

UniProtKB/Swiss-Prot: Q969W0

Clinical Significance

A change in this gene was identified in a UDN participant. Contact the UDN if you or someone you know has a variant in this gene.

Gene SPTSSA
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Contact Us

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