ACAN

ACAN
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 4MD4
Dynodwyr
Cyfenwau	ACAN, AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, Aggrecan, SSOAOD
Dynodwyr allanol	OMIM: 155760 HomoloGene: 136177 GeneCards: ACAN
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • extracellular matrix structural constituent • metal ion binding • GO:0001948, GO:0016582 protein binding • hyaluronic acid binding • carbohydrate binding • extracellular matrix structural constituent conferring compression resistance Cydrannau o'r gell • GO:0005578 extracellular matrix • extracellular region • lysosomal lumen • Golgi lumen • basement membrane • collagen-containing extracellular matrix • perisynaptic extracellular matrix • glutamatergic synapse • GABA-ergic synapse Prosesau biolegol • skeletal system development • extracellular matrix disassembly • extracellular matrix organization • proteolysis • central nervous system development • keratan sulfate catabolic process • keratan sulfate biosynthetic process • cell adhesion • cartilage condensation • chondrocyte development • heart development • proteoglycan biosynthetic process • collagen fibril organization Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	176	n/a
Ensembl	ENSG00000157766	n/a
UniProt	P16112	n/a
RefSeq (mRNA)	NM_001135 NM_013227 NM_001369268	n/a
RefSeq (protein)	NP_001126 NP_037359 NP_001356197	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn ACAN yw ACAN a elwir hefyd yn Aggrecan core protein (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 15, band 15q26.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn ACAN.

• AGC1
• SEDK
• AGCAN
• CSPG1
• MSK16
• CSPGCP
• SSOAOD

Llyfryddiaeth

• "Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain. ". PLoS One. 2017. PMID 28742099.
• "Novel pathogenic ACAN variants in non-syndromic short stature patients. ". Clin Chim Acta. 2017. PMID 28396070.
• "CASE-REPORT Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study. ". Genet Mol Res. 2016. PMID 28002585.
• "Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. ". J Clin Endocrinol Metab. 2017. PMID 27870580.
• "ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment.". J Clin Endocrinol Metab. 2017. PMID 27710243.