Gene Symbol | VANGL1 |
Entrez Gene ID | 81839 |
Full Name | VANGL planar cell polarity protein 1 |
Synonyms | KITENIN,LPP2,STB2,STBM2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]. |
Disorder MIM: | |
Disorder Html: | Caudal regression syndrome, 600145 (3); {Neural tube defects, susceptibility to}, 182940 (3) |