Gene: RNF123

Alternate names for this Gene: FP1477|KPC1

Gene Summary: The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: ring finger protein 123

Type of Gene: protein-coding

Gene: GMPPB

Alternate names for this Gene: LGMDR19|MDDGA14|MDDGB14|MDDGC14

Gene Summary: This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: GDP-mannose pyrophosphorylase B

Type of Gene: protein-coding

rs199922550 in RNF123;GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

rs199922550 in RNF123;GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

rs199922550 in RNF123;GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 28478914 2017 Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

PMID 28433477 2017 Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.