rs2229656
This variant is located in the SORD gene.
▶ClinVar annotation
not provided; Clear cell carcinoma of kidney; Sarcoma; Hepatocellular carcinoma; Cervical cancer; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Malignant tumor of esophagus; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Thymoma; Cholangiocarcinoma; not specified
View on ClinVar →About SORD
Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
View all SORD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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