7uqc: Difference between revisions
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== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/HECAM_HUMAN HECAM_HUMAN] Macrocephaly-intellectual disability-autism syndrome | [https://www.uniprot.org/uniprot/HECAM_HUMAN HECAM_HUMAN] Megalencephalic leukoencephalopathy with subcortical cysts;Macrocephaly-intellectual disability-autism syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. | ||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/HECAM_HUMAN HECAM_HUMAN] Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation.<ref>PMID:15885354</ref> <ref>PMID:15917256</ref> | [https://www.uniprot.org/uniprot/HECAM_HUMAN HECAM_HUMAN] Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation (PubMed:15885354, PubMed:15917256). In glia, associates and targets CLCN2 at astrocytic processes and myelinated fiber tracts where it may regulate transcellular chloride flux involved in neuron excitability (PubMed:22405205).<ref>PMID:15885354</ref> <ref>PMID:15917256</ref> <ref>PMID:22405205</ref> | ||
== References == | == References == | ||
<references/> | <references/> | ||
