Table 2.
Proteins of the SMCR8 interactome associated with CNS disease according to the Online Mendelian Inheritance in Man (OMIM) database
| GENE NAME | DISEASE NAME | SYMBOL | OMIM # |
|---|---|---|---|
| ALS/FTD | |||
| ATXN2 | Amyotrophic lateral sclerosis 13 | ALS13 | 183,090 |
| C9orf72 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | FTDALS1 | 105,550 |
| DCTN1 | Amyotrophic lateral sclerosis | ALS | 105,400 |
| FIG4 | Amyotrophic lateral sclerosis 11 | ALS11 | 612,577 |
| FUS | Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | ALS6 | 608,030 |
| MATR3 | Amyotrophic lateral sclerosis 21 | ALS21 | 606,070 |
| SQSTM1 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | FTDALS3 | 616,437 |
| TARDBP | Amyotrophic lateral sclerosis 10 | ALS10 | 612,069 |
| OTHER NEURODEGENERATION DISEASES | |||
| AIFM1 | Combined oxidative phosphorylation deficiency 6 | COXPD6 | 300,816 |
| ATXN2 | Spinocerebellar ataxia 2 | SCA2 | 183,090 |
| CTSD | Ceroid lipofuscinosis, neuronal, 10 | CLN10 | 610,127 |
| DYNC1H1 | Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant | SMALED1 | 158,600 |
| EIF4G1 | Parkinson disease 18 | PARK18 | 614,251 |
| NOP56 | Spinocerebellar ataxia 36 | SCA36 | 614,153 |
| PARK7 | Parkinson disease 7 | PARK7 | 606,324 |
| PCNA | Ataxia-telangiectasia-like disorder 2 | ATLD2 | 615,919 |
| PUM1 | Spinocerebellar ataxia 47 | SCA47 | 617,931 |
| QARS | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | MSCCA | 615,760 |
| RARS | Leukodystrophy, hypomyelinating, 9 | HLD9 | 616,140 |
| SPG20 | Spastic paraplegia 20, autosomal recessive | SPG20 | 275,900 |
| STUB1 | Spinocerebellar ataxia, autosomal recessive, 16 | SCAR16 | 615,768 |
| WNK1 | Neuropathy, hereditary sensory and autonomic, 2A | HSAN2A | 201,300 |
| OTHER NEUROLOGICAL CONDITIONS | |||
| ADAR | Aicardi-Goutieres syndrome 6 | AGS6 | 615,010 |
| ADNP | Helsmoortel-van der Aa syndrome | HVDAS | 615,873 |
| AIFM1 | Cowchock syndrome | COWCK | 310,490 |
| AIMP1 | Leukodystrophy, hypomyelinating, 3 | HLD3 | 260,600 |
| AIMP2 | Leukodystrophy, hypomyelinating, 17 | HLD17 | 618,006 |
| ALDH18A1 | Spastic paraplegia 9A, autosomal dominant | SPG9A | 601,162 |
| ALDH18A1 | Spastic paraplegia 9B, autosomal recessive | SPG9B | 616,586 |
| ALDH3A2 | Sjogren-Larsson syndrome | SLS | 270,200 |
| ARHGEF2 | Neurodevelopmental disorder with midbrain and hindbrain malformations | NEDMHM | 617,523 |
| ATAD3A | Harel-Yoon syndrome | ATAD3A | 612,316 |
| ATP1A1 | Charcot-Marie-Tooth disease, axonal, type 2DD | CMT2DD | 618,036 |
| CAD | Epileptic encephalopathy, early infantile, 50 | AR | 616,457 |
| CDK5 | Lissencephaly 7, with cerebellar hypoplasia | LIS7 | 616,342 |
| CLTC | Mental retardation, autosomal dominant 56 | MRD56 | 617,854 |
| COPB2 | Microcephaly 19, primary, autosomal recessive | MCPH19 | 617,800 |
| DARS | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | HBSL | 615,281 |
| DCTN1 | Neuronopathy, distal hereditary motor, 7B | HMN7B | 607,641 |
| DCTN1 | Perry syndrome | PERRYS | 168,605 |
| DOCK7 | Epileptic encephalopathy, early infantile, 23 | AR | 615,859 |
| DYNC1H1 | Charcot-Marie-Tooth disease 2O | CMT2O | 614,228 |
| DYNC1H1 | Mental retardation, autosomal dominant 13 | MRD13 | 614,563 |
| EPRS | Leukodystrophy, hypomyelinating, 15 | HLD15 | 617,951 |
| FIG4 | Polymicrogyria, bilateral temporooccipital | BTOP | 612,691 |
| FIG4 | Charcot-Marie-Tooth disease 4 J | CMT4J | 611,228 |
| FKBP5 | {Major depressive disorder and accelerated response to antidepressant drugs} | MDD | 608,516 |
| FMR1 | Fragile X syndrome | FRAX | 300,624 |
| FMR1 | Fragile X tremor/ataxia syndrome | FXTAS | 300,623 |
| GATAD2B | Mental retardation, autosomal dominant 18 | MRD18 | 615,074 |
| HCFC1 | Mental retardation, X-linked 3 | MRX3 | 309,541 |
| HNRNPH2 | Mental retardation, X-linked, syndromic, Bain type | MRXSB | 300,986 |
| HPRT1 | Lesch-Nyhan syndrome | LNS | 300,322 |
| HSD17B4 | Perrault syndrome 1 | PRLTS1 | 233,400 |
| HSPB1 | Neuropathy, distal hereditary motor, type IIB | HMN2B | 608,634 |
| HSPB1 | Charcot-Marie-Tooth disease 2F | CMT2F | 606,595 |
| HUWE1 | Mental retardation, X-linked 17 | MRX17 | 300,705 |
| HUWE1 | Mental retardation, X-linked, syndromic, Turner type | MRXST | 300,706 |
| LAS1L | Wilson-Turner syndrome | WTS | 309,585 |
| LMNA | Charcot-Marie-Tooth disease 2B1 | CMT2B1 | 605,588 |
| LRPPRC | Leigh syndrome French-Canadian type | LSFC | 220,111 |
| MARS | Charcot-Marie-Tooth disease 2 U | CMT2U | 616,280 |
| MTHFD1 | Neural tube defects, folate-sensitive | NTDFS | 601,634 |
| NSUN2 | Mental retardation, autosomal recessive 5 | MRT5 | 611,091 |
| PDK3 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | CMTX6 | 300,905 |
| PPP2R1A | Mental retardation, autosomal dominant 36 | MRD36 | 616,362 |
| PSMD12 | Stankiewicz-Isidor syndrome | STISS | 617,516 |
| RANBP2 | Encephalopathy, acute, infection-induced, 3 | IIAE3 | 608,033 |
| SAMHD1 | Aicardi-Goutieres syndrome 5 | AGS5 | 612,952 |
| SLC25A1 | Combined D-2- and L-2-hydroxyglutaric aciduria | D2L2AD | 615,182 |
| SLC25A22 | Epileptic encephalopathy, early infantile, 3 | EIEE3 | 609,304 |
| SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA | HSN1A | 162,400 |
| TECR | Mental retardation, autosomal recessive 14 | MRT14 | 614,020 |
| THOC2 | Mental retardation, X-linked 12 | MRX12 | 300,957 |
| TUBB3 | Cortical dysplasia, complex, with other brain malformations 1 | CDCBM1 | 614,039 |
| TUBB4A | Leukodystrophy, hypomyelinating, 6 | HLD | 612,438 |
| USP9X | Mental retardation, X-linked 99 | MRX99 | 300,919 |
| USP9X | Mental retardation, X-linked 99, syndromic, female-restricted | MRXS99F | 300,968 |