| L1CAM |
| LOCUS ID | 3897 | ||||||||||
| GENE_SYMBOL | L1CAM | ||||||||||
| GENE NAME | L1 cell adhesion mol | ||||||||||
| SYNONYMNS | S10 HSAS MASA MIC5 SPG1 CAML1 CD171 HSAS1 N-CAML1 NCAM-L1 N-CAM-L1 | ||||||||||
| CHROMOSOME | X | ||||||||||
| HOMOLOGENE ID | 20128 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as C |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Retinopathy | 1. This study identified that higher PIP, THBS2 and/or NGAL levels were significantly associated with nephropathy of T2DM, and higher L1CAM but normal PIP, THBS2 or NGAL was significantly associated with retinopathy of T2DM. | 27446820 |