Difference between revisions of "Maple Syrup Urine Disease 2012"

From Bioinformatikpedia
(Mutations)
(Mutations)
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== Mutations ==
 
== Mutations ==
  +
= Reference sequence =
 
[[Reference sequence (uniprot)]]
 
[[Reference sequence (uniprot)]]
  +
= Mutated sequence =

Revision as of 13:25, 20 April 2012

Summary

place summary in here

Phenotype

Biochemical disease mechanism

MSUD affects a protein called branched-chain alpha-keto acid dehydrogenase complex (BCKDHC), which is involved in the degradation of branched amino acids (Val, Leu, Ile). BCKDHC consists of four subunits:

subunit name chromosomal gene location MSUD-type
BCKDHA Branched chain keto acid dehydrogenase E1, alpha polypeptide 19q13.1-q13.2 1a
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 6q14.1 1b
DBT Dihydrolipoamide branched chain transacylase E2 1p31 2
DLD dihydrolipoamide dehydrogenase 7q31-q32 3

Kegg-pathway-marked.jpg

Mutations

Reference sequence

Reference sequence (uniprot)

Mutated sequence