Previous symbols: CTLN2. Aliases: CITRIN, ARALAR2.
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 |
|---|---|---|
| Citrin Deficiency | untyped |
mechanism: SLC25A13 transporter molecular function deficiency
subtype: CTLN2 (Adult-onset Type II Citrullinemia); FTTDCD (Failure to Thrive and Dyslipidemia caused by Citrin Deficiency); NICCD (Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency)
|
| Split Hand-Foot Malformation | no genetic record germline |
mechanism: Deletion of DYNC1I1 Exonic Limb Enhancers
|
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 |
|---|---|---|---|
| citrin deficiency MONDO:0016602 | AR | Definitive 2021-07-23 |
Citrin Deficiency
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.