Gene: [0Mh10470/MTND4L] NADH dehydrogenase subunit 4L (mitochondrial); diarrhea, chronic, with villous atrophy (MIM:520100);
PAT | The chronic diarrhea and villous atrophy with onset in the first years of life was described in two unrelated patients (Cormier-Daire-1994). Analysis of the mitochondrial respiratory chain showed a complex III deficiency in muscle of both patients. Southern blot analysis provided evidence of heteroplasmic mitochondrial DNA rearrangements that involved deletion and deletion-duplication. In 1 patient, the deletion extended from nucleotide 10744 in the ND4L gene to nucleotide 14124 in the ND5 gene (GEM:0Mh12337/MTND5). In the other patient, the 4,191-bp deletion extended from 10665 in the ND4L gene to nucleotide 14856 in the cytochrome b gene (GEM:0Mh14747/MTCYB)." |
GEN | The gene length: 0.30 kb (297 bp). |
REL | GEM:0Mh3307/MTND1 |
REF | PAT,MUT,ABR
"Cormier-Daire V &: J Pediatr, 124, 63-70, 1994 |
SWI | SWISSPROT: P03901 |
KEY | mito |
CLA | coding, basic |
LOC | 0M H10470-10766 |
MIM | MIM: 516004 |
EZN | ENZYME: 1.6.5.3 |
