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Browse result for MASA syndrome
※ introduction MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias a paraplegia known to increase stiffness spasticity in the lower limbs. This syndrome also has two other names, CRASH syndrome and Gareis-Mason syndrome.
Reference
Wiki: MASA syndrome
Reference
Wiki: MASA syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04839 | P32004 | 3897 | L1CAM | Neural cell adhesion molecule L1 | Homo sapiens |
