FAM161A

family with sequence similarity 161 member A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]

From UniProt:

Involved in ciliogenesis.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 28

From UniProt:

Retinitis pigmentosa 28 (RP28): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:606068]

Cytogenetic Location: 2p15, which is the short (p) arm of chromosome 2 at position 15

Molecular Location: base pairs 61,800,240 to 61,856,074 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p15, which is the short (p) arm of chromosome 2 at position 15