SPTAN1

spectrin alpha, non-erythrocytic 1

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000197694
OMIM:: 182810

Phenotypes

Mouse phenotype:: abnormal head shape, abnormal retina vasculature morphology, abnormal kidney morphology, persistence of hyaloid vascular system, abnormal midbrain development, cataract, abnormal vitreous body morphology, enlarged kidney, microphthalmia, abnormal neural tube closure

Subcellular localization

Vesicles, Microtubules

References: PMID:31299042

Functional category

Cilia–cytoskeleton/adhesion links

Function

α-spectrin (SPTN1 or SPTAN1) knockdown reduced ciliate cell numbers after 48-h siRNA transfection(31299042).

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