aldehyde dehydrogenase 18 family member A1
Last updated 5 Aug 2021
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
The ALDH18A1 gene provides instructions for making a protein known as P5CS. This protein is found in cell structures called mitochondria, which are the energy-producing centers of cells. P5CS appears to be important for mitochondrial function, and it plays a role in the formation (synthesis) of the protein building block (amino acid) proline.
Normal function
The ALDH18A1 gene provides instructions for making a protein known as P5CS. This protein is found in cell structures called mitochondria, which are the energy-producing centers of cells. P5CS appears to be important for mitochondrial function, and it plays a role in the formation (synthesis) of the protein building block (amino acid) proline.
The formation of proline is a multi-step process that converts the amino acid glutamate to the amino acid proline. The P5CS protein carries out the first step in this process by converting the amino acid glutamate to glutamate 5-semialdehyde. Subsequent steps convert this intermediate product to the amino acid proline. The conversion of glutamate to proline is important in maintaining a supply of the amino acids needed for protein production and for energy transfer within the cell.
Conditions referring to this gene or chromosome
Other names
GSAS
PYCS
pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
Related patient information and medicines
Patient information leaflet
Albinism
Albinism is a rare inherited (genetic) condition which reduces the amount of of melanin pigment in the skin, hair and/or eyes. People with albinism are often pale, with light-coloured irises. However, there are many types of albinism and people can be affected to different degrees. Hair that is very light blonde, brown, or reddish. Eyes that are.
Patient information leaflet
Free or reduced cost prescriptions
Some people automatically get free prescriptions. Certain people can get an exemption certificate to obtain free prescriptions. Also, anyone needing regular prescriptions may save money by buying a Prescription Prepayment Certificate. Note : this leaflet only applies to England because prescriptions are free to all in Northern Ireland, Scotland.
Patient information leaflet
Anorexia nervosa
Anorexia nervosa is an eating disorder. A person with anorexia nervosa feels compelled to control and lose weight and often finds that food dominates their life. They will be able to advise you on how much to eat, what your healthy target weight should be and how to safely reach... Anorexia Focused Family Therapy If you are under 18, it is likely.
Patient information leaflet
Newborn bloodspot test
Mothers of all newborn babies are offered testing for certain rare but serious health conditions by testing blood taken from the baby's heel. This is the blood spot screening... Medium-chain acyl-Co-A dehydrogenase deficiency (MCADD)- this is a very rare, but potentially life-threatening, inherited disorder, where fat cannot be broken down by the.
Patient information leaflet
Planning to become pregnant
The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of pregnancy complications. Women on regular medication, or who have a long-term medical condition, may need to seek medical advice to discuss any changes which may need to be made. There is a summary checklist at the end of the leaflet. Studies have shown.
Patient information leaflet
Find out if you are eligible for a free NHS flu vaccination
Open the flu jab Is the flu vaccine free for you this winter. The flu vaccine is free on the NHS for people most likely to get seriously ill from flu, and for those who could easily pass it on to someone at risk. Whether you qualify depends on your age, your health, and a few other things such as being pregnant or caring for someone. The groups.
Further reading and references
- aldehyde dehydrogenase 18 family member A1; MedlinePlus, National Library of Medicine.
- Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91. Epub 2008 May 14.
- Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.
- Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Kruger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.
- Panza E, Escamilla-Honrubia JM, Marco-Marin C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Nemeth AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. No abstract available.
- Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Haberle J, Kornak U, Brancati F. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J Med Genet A. 2012 Apr;158A(4):927-31. doi: 10.1002/ajmg.a.35231. Epub 2012 Mar 12. No abstract available.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.