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NGLY1

NGLY1

Protein-coding gene in the species Homo sapiens

amidase is an enzyme that in humans is encoded by the NGLY1 gene. PNGase is a de-N-glycosylating enzyme that removes N-linked or asparagine-linked

NGLY1

NGLY1 deficiency

Medical condition

NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in NGLY1. It is an autosomal recessive disorder. Errors in deglycosylation

NGLY1 deficiency

NGLY1_deficiency

Matt Might

Organization for Rare Disorders. Might is the Chief Scientific Officer of the NGLY1 Foundation. Might's early work focused on cybersecurity. In recent years

Matt Might

Matt_Might

Alacrima

Medical condition

syndrome and NGLY1 deficiency. Alacrima can be formally diagnosed through a Schirmer's test.[citation needed] "NGLY1 Foundation". NGLY1 deficiency. Archived

Alacrima

Congenital disorder of glycosylation

Medical condition

first case of a congenital disorder of deglycosylation, NGLY1 deficiency. A 2014 study of NGLY1 deficient patients found similarities with traditional

Congenital disorder of glycosylation

Congenital_disorder_of_glycosylation

David B. Goldstein (geneticist)

American geneticist

of Childhood in collaboration with Erin Heinzen and others. Discovery of NGLY1 deficiency as a new syndrome in collaboration with Vandana Shashi, Anna

David B. Goldstein (geneticist)

David_B._Goldstein_(geneticist)

Carolyn Bertozzi

American chemist (born 1966)

the Grace Science Foundation in 2018. The foundation focuses on curing NGLY1 deficiency through developing therapeutics that are efficient and inexpensive

Carolyn Bertozzi

Carolyn_Bertozzi

List of human protein-coding genes 5

HGNC:7807; Q8N5V2 10503 NGF HGNC:7808; P01138 10504 NGFR HGNC:7809; P08138 10505 NGLY1 HGNC:17646; Q96IV0 10506 NGRN HGNC:18077; Q9NPE2 10507 NHEJ1 HGNC:25737;

List of human protein-coding genes 5

List_of_human_protein-coding_genes_5