Gene: [0X^/ECHD] enoyl-CoA hydratase (3-hydroxyacyl-CoA hydro-lyase);


COM

The locus ECHD has been excluded from the GDB and MIM catalogues.

PAT

It is possible that the defect of activation of fatty acid (with very long chain) beta-oxidation resulting from the deficiency of the ECHD gene product is of importance for the pathogenesis of adrenoleukodystrophy (GEM:0Xq28/ALD). For more detail on the genes participating in the beta-oxidation, see GEM:0X^/ACADX."

REF

LOC "Wanders RJ &: BBRC, 153, 618-624, 1988

KEY

mtbd, lip

CLA

coding, basic

LOC

0X

MIM

?

EZN

ENZYME: 4.2.1.17

Смотрите также:

  • Gene: [19q131/ECH1] enoyl-CoA hydratase 1, peroxisomal;