Aliases: FLJ12377, Bst1, SPG67.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Agnathia-Otocephaly Complex | unknown |
animal model: Mouse (Mus musculus)
|
| Autosomal Recessive Non-Syndromic Intellectual Disability | causative germline |
mechanism: Loss of a Gene-Specific Molecular Function Required by Developing Neurons
subtype: MRT42
scoped to subtype: MRT42
|
| Chromosome 2q32-q33 Deletion Syndrome | no genetic record |
mechanism: Contiguous-gene 2q32-q33 haploinsufficiency
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.