Gene: CCDC69

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.1

Description of this Gene: coiled-coil domain containing 69

Type of Gene: protein-coding

Gene: GM2A

Alternate names for this Gene: GM2-AP|SAP-3

Gene Summary: This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.1

Description of this Gene: GM2 ganglioside activator

Type of Gene: protein-coding

Gene: LOC105378230

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs979453 in CCDC69;GM2A;LOC105378230 gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs12521757 in CCDC69;GM2A;LOC105378230 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.