GENETIC ENCYCLOPEDIA
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gene: MACF1

id23499
symbolMACF1
organismHomo sapiens
full namemicrotubule actin crosslinking factor 1
summaryThis gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
variant-disease

NM_012090.5(MACF1):c.6753-2_6754delAGAG AND Malignant tumor of prostate

NM_012090.5(MACF1):c.11812-11C>T AND Short stature

NM_012090.5(MACF1):c.10617+444_15577-288del AND Lissencephaly with decussation defect

NM_012090.5(MACF1):c.15682G>T (p.Asp5228Tyr) AND LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION

NM_012090.5(MACF1):c.2555C>G (p.Ser852Ter) AND Abnormality of the corpus callosum

... 33 more


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