Gene: AP4B1

Alternate names for this Gene: BETA-4|CPSQ5|SPG47

Gene Summary: This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.2

Description of this Gene: adaptor related protein complex 4 subunit beta 1

Type of Gene: protein-coding

Gene: DCLRE1B

Alternate names for this Gene: APOLLO|SNM1B|SNMIB

Gene Summary: DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.2

Description of this Gene: DNA cross-link repair 1B

Type of Gene: protein-coding

rs11552449 in AP4B1;DCLRE1B gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

rs11552449 in AP4B1;DCLRE1B gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.