And Cataract Retinitis Pigmentosa Ataxia Hearing Loss Polyneuropathy

mutation on ABHD12 protein, human

Also Known As:

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Nervous System Diseases (Neurological Disorders)

Experts

1.	Kamat, Siddhesh S: 2 articles (11/2018 - 02/2015)
2.	Joshi, Alaumy: 1 article (11/2018)
3.	Mhetre, Amol: 1 article (11/2018)
4.	Rajendran, Abinaya: 1 article (11/2018)
5.	Shaikh, Minhaj: 1 article (11/2018)
6.	Singh, Shubham: 1 article (11/2018)
7.	Bird, Thomas D: 1 article (02/2015)
8.	Camara, Kaddy: 1 article (02/2015)
9.	Chen, Dong-Hui: 1 article (02/2015)
10.	Cravatt, Benjamin F: 1 article (02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to And Cataract Retinitis Pigmentosa Ataxia Hearing Loss Polyneuropathy:

1.	Serine (L-Serine)FDA Link 11/02/2018 - "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare genetic human neurological disorder caused by null mutations to the Abhd12 gene, which encodes the integral membrane serine hydrolase enzyme ABHD12. "
2.	Lipase (Acid Lipase)FDA Link 02/01/2015 - "Recently, we determined that ABHD12 is a major brain lyso-PS lipase, implicating lyso-PSs in the neurological disease polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (PHARC), which is caused by null mutations in the ABHD12 gene. "
3.	HydrolasesIBA 11/02/2018 - "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare genetic human neurological disorder caused by null mutations to the Abhd12 gene, which encodes the integral membrane serine hydrolase enzyme ABHD12. "
4.	EnzymesIBA 11/02/2018 - "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare genetic human neurological disorder caused by null mutations to the Abhd12 gene, which encodes the integral membrane serine hydrolase enzyme ABHD12. "