Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Kelch repeat and BTB (POZ) domain containing 13
KBTBD13 (15q22.31)


* LGMD related to KBTBD13 - (1.29, 3.6)
* Nemaline myopathy 6 - NEM6 (1.29, 3.6)
Kelch-like family member 40
KLHL40 (2p22.1)


* Severe autosomal-recessive nemaline myopathy - NEM8 (3.8)
Kelch-like family member 41
KLHL41 (2q31.1)


* Nemaline myopathy - NEM9 (3.9)
Kelch-like homologue 9
KLHL9 (9p21.2-p22.3)


* Early onset distal myopathy with KLHL9 mutations - (4.22)
KIAA1985 protein
SH3TC2 (5q32)


* Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.26)
kinase D-interacting substrate, 220kDa
KIDINS220 (2p25.1)


* Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO (15.22)
Kinesin family member 1A
KIF1A (2q37.3)


* Spastic paraplegia 30 - SPG30 (14.115, 15.38)
* Neuropathy, hereditary sensory, type IIC - HSN2C (14.115, 15.38)
Kinesin family member 1B(M)
KIF1B (1p36.2)


* Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.47)
kinesin family member 1C
KIF1C (17p13.2)


* ataxia, spastic, 2, autosomal recessive - SPAX2 (15.77)
Kinesin family member 20A
KIF20A (5q31.2)


* Restrictive cardiomyopathy, 6 - RCM6 (10.97)
Kinesin family member 21A
KIF21A (12q12)


* Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)
Kinesin family member 26B
KIF26B (1q44)


* Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B - (12.100)
Kinesin family member 5A
KIF5A (12q13.13)


* CMT2 related to KIF5A - (12.71, 14.73, 15.6)
* Spastic paraplegia 10 - SPG10 (12.71, 14.73, 15.6)
* Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 (12.71, 14.73, 15.6)
Kinesin light chain 2
KLC2 (11q13.2)


* Spastic paraplegia, optic atrophy, and neuropathy - SPOAN (15.70)
Kir2.6 (inwardly rectifying potassium channel 2.6)
KCNJ18 (17p11.2)


* Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)
Kyphoscoliosis peptidase
KY (3q22.2)


* Myopathy microfibrillar type 7 - MFM7 (5.8)