R3HDML
Description
The R3HDML (R3H domain containing like) is a protein-coding gene located on chromosome 20.
R3HDML is a protein in humans encoded by the R3HDML gene. It contains an R3H domain.
A protein that is thought to inhibit serine proteases.
R3HDML is also known as dJ881L22.3.
Associated Diseases
- type 2 diabetes mellitus
- GNE myopathy
- exercise intolerance, riboflavin-responsive
- tibial muscular dystrophy
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- muscular dystrophy, limb-girdle, autosomal recessive 23
- distal myopathy, Welander type
- myofibrillar myopathy 3
- autosomal recessive limb-girdle muscular dystrophy type 2H
- polyglucosan body myopathy type 2
- autosomal recessive limb-girdle muscular dystrophy type 2G
- autosomal dominant distal myopathy
- autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
- autosomal dominant mitochondrial myopathy with exercise intolerance
