Gene: ZP3

Alternate names for this Gene: OOMD3|ZP3A|ZP3B|ZPC|Zp-3

Gene Summary: The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: zona pellucida glycoprotein 3

Type of Gene: protein-coding

Gene: SSC4D

Alternate names for this Gene: S4D-SRCRB|SRCRB-S4D|SRCRB4D

Gene Summary: The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004]. ##Evidence-Data-START## Transcript exon combination :: AK172783.1, AJ312755.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145774, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000275560.4/ ENSP00000275560.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: scavenger receptor cysteine rich family member with 4 domains

Type of Gene: protein-coding

rs6465122 in ZP3;SSC4D gene and Parkinson Disease PMID 25663231 2015 PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.