Previous symbols: SRS. Aliases: SPMSY, SpS, MRSR.
SMS (spermine synthase) is named by 1 disorder entry.
ai-gene-review gives SMS's core molecular function as spermine synthase activity, acting in spermine biosynthetic process: the enzyme transfers an aminopropyl group from decarboxylated S-adenosylmethionine to spermidine.
The one entry that names SMS, Snyder-Robinson Syndrome, types it causative with a germline origin. ClinGen rates the gene definitive for this disease. The gene sits on the node Spermine Synthase Loss of Function.
The KB's SMS node and the ai-gene-review core function share the process spermine biosynthetic process, which the disease entry marks as decreased.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
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 |
|---|---|---|
| Snyder-Robinson Syndrome |
causative
germline
CLINGEN: definitive
|
mechanism: Spermine Synthase Loss of Function
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| syndromic X-linked intellectual disability Snyder type MONDO:0010664 | XL | Definitive 2018-05-16 |
Snyder-Robinson Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.