MTSS2

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 male, age 8, with global developmental day, autism, and uncoordinated walking (gait ataxia) (read full description).

Date of Report

Dec 11, 2019

Full Name

MTSS 1-bar domain containing 2

Location

Chromosome 16 (16q22.1)

Function

The MTSS2 gene, previously called MTSS1L, is involved in plasma membrane dynamics (Zheng et al., 2010). Additionally, the MTSS2 gene may function in actin bundling (Yamagishi et al., 2004).

Database Links

GeneCards: MTSS2

NCBI Gene: 92154

OMIM: 616951

UniProtKB/Swiss-Prot: Q765P7

Clinical Significance

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

Gene MTSS2

Inheritance Pattern Unknown

Position (hg19) chr16:g.70697813C>T

Transcript NM_138383.2

DNA Change c.2011C>T

Protein Change p.Arg671Trp

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