Gene: GSTZ1

Alternate names for this Gene: GSTZ1-1|MAAI|MAAID|MAI

Gene Summary: This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: glutathione S-transferase zeta 1

Type of Gene: protein-coding

Gene: POMT2

Alternate names for this Gene: LGMD2N|LGMDR14|MDDGA2|MDDGB2|MDDGC2

Gene Summary: The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: protein O-mannosyltransferase 2

Type of Gene: protein-coding

rs961440747 in GSTZ1;POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

rs961440747 in GSTZ1;POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

rs961440747 in GSTZ1;POMT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 PMID 15894594 2005 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.