Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Maspardin
SPG21 (15q21-q22)


* Spastic paraplegia 20 - SPG21 (15.27)
Matrin 3
MATR3 (5q31)


* Vocal cord and pharyngeal distal myopathy - VCPDM (4.5, 12.58)
* Familial amyotrophic lateral sclerosis - ALS21 (4.5, 12.58)
Mediator complex subunit 25
MED25 (19q13)


* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.69)
membrane metallo-endopeptidase
MME (3q25.2)


* Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.58)
* Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.58)
methionyl-tRNA synthetase
MARS (12q13.3)


* Charcot-Marie-Tooth 2 - (14.64)
methionyl-tRNA synthetase 2, mitochondrial(M)
MARS2 (2q33-34)


* autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.69)
Mitochondrial carrier; adenine nucleotide translocator(M)
SLC25A4 (4q35)


* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.17)
Mitochondrial DNA polymerase, accessory subunit(M)
POLG2 (17q24.1)


* progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.19)
mitochondrial poly(A) polymerase(M)
MTPAP (10p12.1)


* Spastic ataxia 4 autosomal recessive - SPAX4 (15.70)
Mitochondrial ribosomal protein L3(M)
MRPL3 (3q21-q23)


* Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.26)
Mitochondrial ribosomal protein L44(M)
MRPL44 (2q36.1)


* Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.29)
Mitochondrial tRNA translation optimization 1(M)
MTO1 (6q13)


* Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.28)
Mitofusin 2(M)
MFN2 (1p36.22)


* Hereditary motor and sensory neuropathy 2A - CMT2A (14.41)
MORC family CW-type zinc finger 2
MORC2 (2q12.2)


* Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.62)
MRE11 meiotic recombination 11 homolog A
MRE11A (11q21)


* ataxia telangiectasia-like disorder - ATLD (13.64)
Multiple EGF-like-domains 10
MEGF10 (5q23.2)


* Recessive congenital myopathy with minicores - (3.27, 3.28)
* Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD (3.27, 3.28)
Muscle-related coiled-coil protein
MURC (9q31.1)


* Dilated cardiomyopathy related to MURC - (10.68)
muscle, skeletal, receptor tyrosine kinase
MUSK (9q31.3-q32)


* Congenital myasthenic syndrome related to MuSK - CMS1B (11.14)
myelin associated glycoprotein
MAG (19q13.12)


* Spastic paraplegia 75, autosomal recessive - SPG75 (15.58)
Myelin protein zero
MPZ (1q22)


* Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
* Dejerine-Sottas syndrome - DSSA (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
* Neuropathy, congenital hypomyelinating - CMT4E (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
* Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
* Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
Myopalladin
MYPN (10q21.1)


* Dilated cardiomyopathy related to myopalladin - (10.61)
Myosin heavy chain 6
MYH6 (14q12)


* Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.65)
* Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.65)
* Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.65)
Myosin heavy chain, 8, skeletal muscle, perinatal
MYH8 (17p13)


* Myosin, heavy chain, perinatal - MYH8 (16.15)
myosin IXA
MYO9A (15q23)


* Congenital Myasthenia - (11.31)
Myosin light chain 2
MYL2 (12q23-q24.3)


* Cardiomyopathy, hypertrophic, mid-left ventricular chamber type - MYL2 (10.9)
* Cardiomyopathy, familial hypertrophic, 10 - CMH10 (10.9)
Myosin light chain 3
MYL3 (3p21.3-p21.2)


* Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
Myosin light chain kinase 2
MYLK2 (20q13.31)


* cardiomyopathy, familial hypertrophic - CMH (10.15)
Myosin, heavy polypeptide 2, skeletal muscle
MYH2 (17p13.1)


* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.32, 3.33, 3.34)
* Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP (3.32, 3.33, 3.34)
Myosin, heavy polypeptide 7, cardiac muscle, beta
MYH7 (14q12)


* Myopathy, distal 1 - MPD1 (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
* cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
* myopathy, congenital, with fiber-type disproportion - CFTD (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
* Myosin storage myopathy - (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
* Cardiomyopathy, dilated, 1S - CMD1S (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
Myosine, heavy chain 3, skeletal muscle, embryonic
MYH3 (17p13)


* Arthrogryposis, distal, type 2A - DA2A (16.9, 16.12)
* Arthrogryposis, distal, type 2B - DA2B (16.9, 16.12)
Myostatin
MSTN (2q32.2)


* Muscle hypertrophy - MSLHP (5.18)
Myotilin
MYOT (5q31)


* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.13, 4.9, 5.6, 5.7)
* Spheroid body myopathy - (1.13, 4.9, 5.6, 5.7)
* Myofibrillar myopathy, myotilin related - MFM3 (1.13, 4.9, 5.6, 5.7)
Myotonic dystrophy protein kinase
DMPK (19q13.3)


* Steinert disease - DM1 (6.1)
* Myotonic dystrophy 1 - DM1 (6.1)
* Dystrophia myotonica - DM (6.1)
Myotubularin
MTM1 (Xq28)


* Myotubular myopathy, X-linked - MTM1 (3.16)
Myotubularin-related protein 2
MTMR2 (11q22)


* Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.18)
Myozenin 2, or calsarcin 1, a Z disk protein
MYOZ2 (4q26)


* Hypertrophic cardiomyopathy related to myozenin 2 - (10.17)
* Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.17)