Gene: FREM1

Alternate names for this Gene: BNAR|C9orf143|C9orf145|C9orf154|MOTA|TILRR|TRIGNO2

Gene Summary: This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation.

Gene is located in Chromosome: 9

Location in Chromosome : 9p22.3

Description of this Gene: FRAS1 related extracellular matrix 1

Type of Gene: protein-coding

Gene: LOC105375979

Alternate names for this Gene:

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rs281875281 in FREM1;LOC105375979 gene and Marles Greenberg Persaud syndrome PMID 17352387 2007 Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

PMID 21507892 2011 Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

PMID 28111185 2017 Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

PMID 23112756 2012 MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.