Gene: CARD14

Alternate names for this Gene: BIMP2|CARMA2|PRP|PSORS2|PSS1

Gene Summary: This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: caspase recruitment domain family member 14

Type of Gene: protein-coding

Gene: SGSH

Alternate names for this Gene: HSS|MPS3A|SFMD

Gene Summary: This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: N-sulfoglucosamine sulfohydrolase

Type of Gene: protein-coding