Kelch proteins: emerging roles in skeletal muscle development and diseases

Skeletal Muscle

Table 2 Kelch family proteins in human diseases

Gene	Function	Expression
*Neuromuscular diseases*
*KLHL1*	Spinocerebellar ataxia type 8[44]	Brain, prostate, small intestine, colon[44]
*KLHL9*	Distal myopathy[20]	Ubiquitous[20]
*KLHL16 (GAN)*	Giant axonal neuropathy[45]	Brain, skeletal muscle, heart, kidney, liver[46]
*KLHL40 (KBTBD5)*	Severe nemaline myopathy with fetal akinesia[14, 37]	Skeletal muscle[14]
*KLHL41 (KBTBD10)*	Nemaline myopathy[22, 38, 39]	Skeletal muscle, lungs[22]
*KBTBD13*	Nemaline myopathy with cores[21]	Skeletal muscle, lungs, heart[21]
*Cancer*
*KLHL6*	Chronic lymphocytic leukemia[47]	Lymphocytes (unknown in other tissues)[48]
*KLHL19 (KEAP1)*	Pulmonary papillary adenocarcinoma[49]	Ubiquitous[50]
*KLHL20*	Prostate cancer progression[51]	Ubiquitous[52]
*KLHL37 (ENC1)*	Brain tumors[53]	Brain (unknown in other tissues)[54]
*KLHDC8B*	Hodgkin’s lymphoma[55]	Unknown
*Other Inherited Diseases*
*KLHL3*	Pseudohypoalsosteronism type II[56]	Cerebellum, kidney, spinal cord, heart, lung, placenta, testis, arota[56]
*KLHL7*	Autosomal dominant retinitis pigmentosa[57]	Ubiquitous[57]
*KLHL10*	Oligozoospermia[58, 59]	Testis[60]

ISSN: 2044-5040