Orphanet: AFG3 like matrix AAA peptidase subunit 2
x

Search for a gene

* (*) mandatory field

AFG3L2 - AFG3 like matrix AAA peptidase subunit 2

  • Synonym(s) : SPAX5
  • Previous symbols and names : AFG3 (ATPase family gene 3, yeast)-like 2, AFG3 ATPase family member 3-like 2 (S. cerevisiae), AFG3 like AAA ATPase 2, SCA28, spinocerebellar ataxia 28
  • Type : gene with protein product
  • Chromosomal location : 18p11.21
  • OMIM: 604581
  • HGNC: 315
  • UniProtKB: Q9Y4W6
  • Genatlas: AFG3L2
  • Ensembl: ENSG00000141385
  • IUPHAR-DB: -
  • Reactome: Q9Y4W6
  • LOVD: AFG3L2

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Health care resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.