GMPPA gene

GDP-mannose pyrophosphorylase A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

From UniProt:

May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.

From NCBI Gene:

  • Alacrima, achalasia, and mental retardation syndrome

From UniProt:

Alacrima, achalasia, and mental retardation syndrome (AAMR): An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. [MIM:615510]

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35

Molecular Location: base pairs 219,498,865 to 219,506,996 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35