Recombinant Human FRAS1-related extracellular matrix protein 1 (FREM1), Truncated

Uniprot Id

Q5H8C1

Target Species

Human

Target Name

FREM1

Target Full Name

FRAS1-related extracellular matrix protein 1

Target Function

Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.

Target Involvement

Bifid nose, with or without anorectal and renal anomalies (BNAR); Manitoba oculotrichoanal syndrome (MOTA); Trigonocephaly 2 (TRIGNO2)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix, basement membrane.

Target Protein Families

FRAS1 family

Target Synonyms

BC037594; BNAR; C9orf143; C9orf145; C9orf154; D430009N09; D630008K06; FLJ25461; FRAS1-related extracellular matrix protein 1; FREM 1; FREM1; FREM1_HUMAN; Heb; MOTA; Protein QBRICK; QBRICK; RGD1306981; RP11-265B7.2; RP23-410K19.1; TILRR

Target Background

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.