KLHL31

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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