KEGG VARIANT: 3028v1

VARIANT: 3028v1

Entry

3028v1                      Variant

Name

HSD17B10 deficiency

Gene

HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 [KO:K08683]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 300256

Network

nt06024 Valine, leucine and isoleucine degradation

Disease

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency

Reference

Authors

Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ

Title

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Journal

Am J Hum Genet 72:1300-7 (2003)
DOI:10.1086/375116

LinkDB

DBGET integrated database retrieval system