Gene: LOC105371841

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: MKS1

Alternate names for this Gene: BBS13|JBTS28|MES|MKS|POC12

Gene Summary: The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q22

Description of this Gene: MKS transition zone complex subunit 1

Type of Gene: protein-coding

Gene: LPO

Alternate names for this Gene: SPO

Gene Summary: This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed.

Gene is located in Chromosome: 17

Location in Chromosome : 17q22

Description of this Gene: lactoperoxidase

Type of Gene: protein-coding

rs375170572 in LOC105371841;MKS1;LPO gene and Familial aplasia of the vermis PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

rs375170572 in LOC105371841;MKS1;LPO gene and Meckel-Gruber syndrome PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.