SPTBN1

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 this gene was identified in a female, age 26 with a history of global developmental delay, moderate intellectual disability, and autism (read full description).

Date of Report

Jul 24, 2019

Full Name

Spectrin beta, non-erythrocytic 1

Location
Chromosome 2 (2p16.2)


Function

The SPTBN1 gene codes for the beta subunit of the spectrin protein, which is important in cellular shape, protection of membranes again stress, positioning of transmembrane proteins, and molecular traffic. Spectrin is made up of four subunits; the beta subunits are responsible for most of the binding activity (Hayes et al., 2000).

Database Links

GeneCards: GC02P054456

NCBI Gene: 6711

OMIM: 182790

UniProtKB/Swiss-Prot: Q01082

Clinical Significance

The following de novo genetic change was identified in a UDN participant:

Gene SPTBN1
Inheritance Pattern Autosomal dominant
Position Chr2:54844791
Transcript NM_003128.2
DNA Change c.613G>A
Protein Change p.G205S
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