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MCID: ACT240
MIFTS: 16
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Actn3 Deficiency
Categories:
Genetic diseases
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OMIM
:
57
Approximately 16% of the world population is predicted to have congenital deficiency of alpha-actinin-3 based on a common nonsense polymorphism in the ACTN3 gene. Expression of alpha-actinin-3 is limited to a subset of type 2 (fast) fibers. No disease phenotype is associated with this deficiency (North et al., 1999). (617749)
MalaCards based summary : Actn3 Deficiency, also known as sprinting performance, is related to hypoglycemia. An important gene associated with Actn3 Deficiency is ACTN3 (Actinin Alpha 3 (Gene/Pseudogene)). Affiliated tissues include skeletal muscle. Wikipedia : 76 Alpha-actinin-3, also known as alpha-actinin skeletal muscle isoform 3 or F-actin cross-linking protein,... more... |
Diseases related to Actn3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
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MalaCards organs/tissues related to Actn3 Deficiency:41
Skeletal Muscle
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Articles related to Actn3 Deficiency:
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Genes related to Actn3 Deficiency (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Actn3 Deficiency.
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