Gene: ZNF627

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: zinc finger protein 627

Type of Gene: protein-coding

Gene: ACP5

Alternate names for this Gene: HPAP|TRACP5a|TRACP5b|TRAP|TrATPase

Gene Summary: This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: acid phosphatase 5, tartrate resistant

Type of Gene: protein-coding

rs1449857485 in ZNF627;ACP5 gene and SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION PMID 21217752 2011 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

PMID 21217755 2011 Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.