- ... Quick Reference for an explanation of nomenclature. Normal gene product . SCN4A encodes the skeletal muscle sodium channel protein type 4 subunit alpha (Nav 1.4), which is activated by membrane depolarization and is responsible for the upstroke of the action potential. It therefore plays a key role in ...
- ... published></gene-summary><gene-summary ><gene-symbol >GBE1</gene-symbol><name >1,4-alpha-glucan branching enzyme 1</name><ghr-page >https:// ...
- ... url></topic><topic ><title >CHRNA4: cholinergic receptor nicotinic alpha 4 subunit</title><url >https://medlineplus.gov/genetics/gene/chrna4</url></topic><topic ><title >CHRNB2: cholinergic receptor ...
- ... al. Transcriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of action. Mol Autism. 2013;4(1):45. doi: 10.1186/2040-2392-4- ...
- ... C, Flanagan SE, Ellard S. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young ...
- ... that influence cancer risk. Other Names for This Gene p110-alpha phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha phosphatidylinositol 3-kinase, catalytic, alpha polypeptide phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform ...
- ... provided, click here . Table B. OMIM Entries for Action Myoclonus - ... RECEPTOR CLASS B, MEMBER 2; SCARB2 Gene structure. SCARB2 contains 5.5 kb with 12 ...
- ... SYNUCLEIN, ALPHA; SNCA Gene and Variant Databases NCBI Gene ClinVar References Bonini NM, Giasson BI. Snaring the function of alpha-synuclein. Cell. 2005 Nov 4;123(3):359-61. doi: 10.1016/j. ...
- ... Fields] 317456 #3 Search (#1 and #2) 8489 #4 Search (“Benzodiazepines”[Mesh] OR “Antidepressive Agents, Tricyclic”[Pharmacological Action] OR “Anticonvulsants”[Pharmacological Action] OR “Adrenergic alpha-Antagonists”[Pharmacological Action] OR “Antipsychotic Agents”[Pharmacological Action] ...
- ... Testing Registry: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ... of Genes and Diseases from OMIM PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH ...
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