Gene: GALK1

Alternate names for this Gene: GALK|GK1|HEL-S-19

Gene Summary: Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: galactokinase 1

Type of Gene: protein-coding

Gene: ITGB4

Alternate names for this Gene: CD104|GP150

Gene Summary: Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: integrin subunit beta 4

Type of Gene: protein-coding

rs762236241 in GALK1;ITGB4 gene and Adult junctional epidermolysis bullosa (disorder) PMID 10484780 1999 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

PMID 12485428 2002 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

rs1184406839 in GALK1;ITGB4 gene and Deficiency of galactokinase PMID 15024738 2004 Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

PMID 10521295 1999 A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

PMID 11139256 2001 Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

PMID 10790206 2000 Novel mutations in 13 probands with galactokinase deficiency.

PMID 11231902 2001 "A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, ""Osaka,"" in Asians."

PMID 12694189 2003 Functional analysis of disease-causing mutations in human galactokinase.

rs762236241 in GALK1;ITGB4 gene and Epidermolysis bullosa with pyloric atresia PMID 12485428 2002 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

PMID 10484780 1999 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

rs762236241 in GALK1;ITGB4 gene and Weber-Cockayne Syndrome PMID 12485428 2002 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

PMID 10484780 1999 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.