Cranio–lenticulo–sutural dysplasia

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Cranio–lenticulo–sutural dysplasia
Classification and external resources
OMIM	607812

Cranio–lenticulo–sutural dysplasia is an autosomal recessive syndrome.

It is associated with a mutation of a phenylalanine to leucine in SEC23A.^[1]

References

↑ Boyadjiev SA, Fromme JC, Ben J, et al. (October 2006). "Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking". Nat. Genet. 38 (10): 1192–7. doi:10.1038/ng1876. PMID 16980979.

v t e Inherited disorders of trafficking / vesicular transport proteins

Vesicle formation	Lysosome/Melanosome: HPS1-HPS7 (Hermansky–Pudlak syndrome) · LYST (Chédiak–Higashi syndrome) · COPII: SEC23A (Cranio–lenticulo–sutural dysplasia) COG7 (CDOG IIE) APC: AP1S2 (X-Linked mental retardation 59) · AP3B1 (Hermansky–Pudlak syndrome 2) · AP4M1 (CPSQ3)

Rab	ARL6 (BBS3) RAB27A (Griscelli syndrome 2) Signal transducing adaptor protein: CHM (Choroideremia) · MLPH (Griscelli syndrome 3)

Cytoskeleton	Myosin: MYO5A (Griscelli syndrome 1) Microtubule: SPG4 (Hereditary spastic paraplegia 4) Kinesin: KIF5A (Hereditary spastic paraplegia 10) Spectrin: SPTBN2 (Spinocerebellar ataxia 5)

Vesicle fusion	Synaptic vesicle: SNAP29 (CEDNIK syndrome) · STX11 (Hemophagocytic lymphohistiocytosis 4) Caveolae: CAV1 (Congenital generalized lipodystrophy 3) · CAV3 (Limb-girdle muscular dystrophy 2B, Long QT syndrome 9) Vacuolar protein sorting: VPS33B (ARC syndrome) · VPS13B (Cohen syndrome) DYSF (Distal muscular dystrophy)

See also vesicular transport proteins B structural perx skel cili mito nucl sclr DNA/RNA/protein synthesis drep trfc tscr tltn membrane icha slcr atpa abct othr transduction iter csrc itra trfk

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