Gene product table



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


* Nemaline myopathy 6 - NEM6 (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 - (4.15)
KIAA1985 protein
SH3TC2 (5q32)


* Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.21)
Kinesin family member 1A
KIF1A (2q37.3)


* Spastic paraplegia 30 - SPG30 (14.83, 15.34)
* Neuropathy, hereditary sensory, type IIC - HSN2C (14.83, 15.34)
Kinesin family member 1B(M)
KIF1B (1p36.2)


* Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.40)
kinesin family member 1C
KIF1C (17p13.2)


* ataxia, spastic, 2, autosomal recessive - SPAX2 (15.68)
Kinesin family member 21A
KIF21A (12q12)


* Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)
Kinesin family member 5A
KIF5A (12q13.13)


* CMT2 related to KIF5A - (14.65, 15.6)
* Spastic paraplegia 10 - SPG10 (14.65, 15.6)
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 (5.11)