Keywords - Autism (KW-1269)
- DefinitionProtein which, if defective, is involved in autism, a pervasive developmental disorder. It is a complex, multifactorial disease characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism manifest moderate mental retardation.
- Synonyms
- Category
- Gene Ontology (GO)
- Ancestors
- Graphical
Related UniProtKB entries
Browse all 30 entries- Lysine-specific demethylase 5A · Gene: KDM5A (JARID1A, RBBP2, RBP2) · Homo sapiens (Human) · EC:1.14.11.67 · 1690 amino acids · Evidence at protein level · Annotation score: 5/5
- Histone-lysine N-methyltransferase SETD5 · Gene: SETD5 (KIAA1757) · Homo sapiens (Human) · EC:2.1.1.359, EC:2.1.1.367 · 1442 amino acids · Evidence at protein level · Annotation score: 5/5
- Branched-chain alpha-ketoacid dehydrogenase kinase · Gene: BCKDK · Homo sapiens (Human) · EC:2.7.11.1 · 412 amino acids · Evidence at protein level · Annotation score: 5/5
- Large ribosomal subunit protein uL16 · Gene: RPL10 (DXS648E, QM) · Homo sapiens (Human) · 214 amino acids · Evidence at protein level · Annotation score: 5/5
- Sodium channel protein type 1 subunit alpha · Gene: SCN1A (NAC1, SCN1) · Homo sapiens (Human) · 2009 amino acids · Evidence at protein level · Annotation score: 5/5
- BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1 · Gene: KCTD13 (BACURD1, PDIP1, POLDIP1) · Homo sapiens (Human) · 329 amino acids · Evidence at protein level · Annotation score: 5/5
- Voltage-dependent L-type calcium channel subunit alpha-1C · Gene: CACNA1C (CACH2, CACN2, CACNL1A1, CCHL1A1) · Homo sapiens (Human) · 2221 amino acids · Evidence at protein level · Annotation score: 5/5
- Caprin-1 · Gene: CAPRIN1 (GPIAP1, GPIP137, M11S1, RNG105) · Homo sapiens (Human) · 709 amino acids · Evidence at protein level · Annotation score: 5/5
- Neuroligin-1 · Gene: NLGN1 (KIAA1070) · Homo sapiens (Human) · 863 amino acids · Evidence at protein level · Annotation score: 5/5
- Centrosomal protein of 41 kDa · Gene: CEP41 (TSGA14) · Homo sapiens (Human) · 373 amino acids · Evidence at protein level · Annotation score: 5/5
- Chromodomain-helicase-DNA-binding protein 8 · Gene: CHD8 (HELSNF1, KIAA1564) · Homo sapiens (Human) · EC:3.6.4.12 · 2581 amino acids · Evidence at protein level · Annotation score: 5/5
- Trimethyllysine dioxygenase, mitochondrial · Gene: TMLHE (TMLH) · Homo sapiens (Human) · EC:1.14.11.8 · 421 amino acids · Evidence at protein level · Annotation score: 5/5
- Neuroligin-3 · Gene: NLGN3 (KIAA1480, NL3) · Homo sapiens (Human) · 848 amino acids · Evidence at protein level · Annotation score: 5/5
- Homeobox protein engrailed-2 · Gene: EN2 · Homo sapiens (Human) · 333 amino acids · Evidence at protein level · Annotation score: 5/5
- Methyl-CpG-binding protein 2 · Gene: MECP2 · Homo sapiens (Human) · 486 amino acids · Evidence at protein level · Annotation score: 5/5
- Protein EFR3 homolog A · Gene: EFR3A (KIAA0143) · Homo sapiens (Human) · 821 amino acids · Evidence at protein level · Annotation score: 5/5
- Sodium/hydrogen exchanger 9 · Gene: SLC9A9 (NHE9) · Homo sapiens (Human) · 645 amino acids · Evidence at protein level · Annotation score: 5/5
- Neuroligin-4, X-linked · Gene: NLGN4X (KIAA1260, NLGN4) · Homo sapiens (Human) · 816 amino acids · Evidence at protein level · Annotation score: 5/5
- Divergent protein kinase domain 2A · Gene: DIPK2A (C3orf58, DIA1) · Homo sapiens (Human) · 430 amino acids · Evidence at protein level · Annotation score: 5/5
- Patched domain-containing protein 1 · Gene: PTCHD1 · Homo sapiens (Human) · 888 amino acids · Evidence at protein level · Annotation score: 5/5
- Ras/Rap GTPase-activating protein SynGAP · Gene: SYNGAP1 (KIAA1938) · Homo sapiens (Human) · 1343 amino acids · Evidence at protein level · Annotation score: 5/5
- Eukaryotic translation initiation factor 4E · Gene: EIF4E (EIF4EL1, EIF4F) · Homo sapiens (Human) · 217 amino acids · Evidence at protein level · Annotation score: 5/5
- Zinc finger MYM-type protein 3 · Gene: ZMYM3 (DXS6673E, KIAA0385, ZNF261) · Homo sapiens (Human) · 1370 amino acids · Evidence at protein level · Annotation score: 5/5
- Autism susceptibility gene 2 protein · Gene: AUTS2 (KIAA0442) · Homo sapiens (Human) · 1259 amino acids · Evidence at protein level · Annotation score: 5/5
- A-type voltage-gated potassium channel KCND2 · Gene: KCND2 (KIAA1044) · Homo sapiens (Human) · 630 amino acids · Evidence at protein level · Annotation score: 5/5