Gene: ALLC

Alternate names for this Gene: ALC

Gene Summary: Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.188641.1, AK302299.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252505.4/ ENSP00000252505.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Gene is located in Chromosome: 2

Location in Chromosome : 2p25.3

Description of this Gene: allantoicase

Type of Gene: protein-coding

Gene: COLEC11

Alternate names for this Gene: 3MC2|CL-K1-I|CL-K1-II|CL-K1-IIa|CL-K1-IIb|CLK1

Gene Summary: This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p25.3

Description of this Gene: collectin subfamily member 11

Type of Gene: protein-coding

rs387907075 in ALLC;COLEC11 gene and Carnevale syndrome PMID 25912189 2015 Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.

PMID 21258343 2011 Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.

PMID 28301481 2017 COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

rs201143466 in ALLC;COLEC11 gene and Tonometry PMID 30591961 2019 Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.