COPB2

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 COPB2 gene was identified in a female, age 9 with spastic diplegia, low bone mineral density, and global developmental delay (read full description).

Date of Report

Nov 28, 2018

Full Name

coatomer protein complex, subunit beta-2

Location

Chromosome 3 (3q23)

Function

The COPB2 gene plays an important role in the formation of vesicles from the Golgi network (Waters et al. 1991).

Database Links

GeneCards: COPB2

NCBI Gene: 9276

OMIM: 606990

UniProtKB: P35606

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene COPB2

Inheritance Pattern Autosomal dominant

Position (hg19) chr3:g.139081338dup

Transcript NM_004766.2

DNA Change c.1906dupA

Protein Change p.Thr636AsnfsTer7

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