SORD

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 UDN participant with elevated creatinine kinase levels, breakdown of muscle tissue (rhabdomyolysis), and discoloration of urine (pigmenturia) (read full description).

Date of Report

Sep 06, 2022

Full Name

Sorbitol Dehydrogenase

Location
Chromosome 15 (15q21.1)
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Function

SORD encodes a protein known as sorbitol dehydrogenase. This protein is important for the catalzyation of polyols and their corresponding ketoses. Sorbitol dehydrogenase also oxidizes sorbitol into fructose by using NAD(+) cofactor (Carr and Markham, 1995).

Database Links

GeneCards: GC15P045023

NCBI Gene: 6652

OMIM: 182500

UniProtKB/Swiss-Prot: Q00796

Clinical Significance

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

Gene SORD
Inheritance Pattern Autosomal recessive
Position (hg19) chr15:g.45361221del
Transcript NM_003104.5
DNA Change c.757delG
Protein Change p.Ala253GlnfsTer27
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