Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene. [5] [6]
MLC1 (also called WKL1 [7] [8] ) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC). [9] Evidence exists for at least one other gene for MLC, but it has not been mapped or identified.
The function of this gene product is not known; however, homology to other proteins suggests that it may be an integral membrane transport protein. [7] Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. [9]
The MLC1 protein contains six putative transmembrane domains (S1–S6) and a pore region (P) between S5 and S6. Furthermore, MLC1 has highest homology with the KCNA1 shaker-related voltage-gated potassium channel (Kv1.1). This analysis suggests that MLC1 may be a cation channel. [7]
Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.
Translation initiation factor eIF-2B subunit delta is a protein that in humans is encoded by the EIF2B4 gene.
Translation initiation factor eIF-2B subunit gamma is a protein that in humans is encoded by the EIF2B3 gene.
24-Dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene.
TRIO and F-actin-binding protein is a protein that in humans is encoded by the TRIOBP gene.
Inversin is a protein that in humans is encoded by the INVS gene.
LIM domain only protein 7 is a protein that in humans is encoded by the LMO7 gene.
CAP-Gly domain-containing linker protein 2 is a protein that in humans is encoded by the CLIP2 gene.
PHD finger protein 3 is a protein that in humans is encoded by the PHF3 gene.
TBC1 domain family member 1 is a protein that in humans is encoded by the TBC1D1 gene.
PERQ amino acid-rich with GYF domain-containing protein 2 is a protein that in humans is encoded by the GIGYF2 gene.
Myoferlin is a protein that in humans is encoded by the MYOF gene.
F-box/LRR-repeat protein 7 is a protein that in humans is encoded by the FBXL7 gene.
Rab3 GTPase-activating protein non-catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP2 gene.
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.
IQ calmodulin-binding motif-containing protein 1 is a protein that in humans is encoded by the IQCB1 gene.
KIAA0196 is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.
Uncharacterized protein KIAA1377 is a protein that in humans is encoded by the KIAA1377 gene. Also known as Cep126, the protein has been shown to localize to the centrosome. Furthermore, it is found at pericentriolar satellites and the base of the primary cilium. Depleting Cep126 leads to dispersion of pericentriolar satellites, in turn disrupting microtubule organization at the mitotic spindle.
IST1 homolog is a protein that in humans is encoded by the KIAA0174 gene.
Megalencephalic leukoencephalopathy with subcortical cysts is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. It is characterized by early-onset enlargement of the head (macrocephaly) as well as delayed-onset neurological deterioration to include spasticity, epilepsy, and lack of muscular coordination. MLC does not appear to be a disease that is fatal at birth or early in life despite its symptoms, although the number of patients throughout history known to have the disease is fairly limited.
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