KLHL31
Description
The KLHL31 (kelch like family member 31) is a protein-coding gene located on chromosome 6.
KLHL31 acts as a transcriptional repressor within the MAPK/JNK signaling pathway, influencing cellular processes. Its overexpression leads to suppression of transcriptional activity at both the TPA-response element (TRE) and serum response element (SRE).
KLHL31 is also known as BKLHD6, KBTBD1, KLHL, bA345L23.2.
Associated Diseases
- cancer
- autosomal dominant mitochondrial myopathy with exercise intolerance
- tibial muscular dystrophy
- distal myopathy, Welander type
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- GNE myopathy
- myofibrillar myopathy 3
- exercise intolerance, riboflavin-responsive
- autosomal recessive limb-girdle muscular dystrophy type 2L
- distal myopathy with anterior tibial onset
- autosomal recessive limb-girdle muscular dystrophy type 2H
- muscular dystrophy, limb-girdle, autosomal recessive 23
